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Abnormality of the eye

MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Synonym: Eye disease
 
HPO: HP:0000478
Monarch Initiative: MONDO:0005328

Definition

Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the eye

Conditions with this feature

Anisocoria
MedGen UID:
1944
Concept ID:
C0003079
Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Melkersson-Rosenthal syndrome
MedGen UID:
6291
Concept ID:
C0025235
Disease or Syndrome
Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by Kunstadter, 1965).
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
Agnathia-otocephaly complex
MedGen UID:
78541
Concept ID:
C0265242
Congenital Abnormality
Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).
Iminoglycinuria
MedGen UID:
124342
Concept ID:
C0268654
Disease or Syndrome
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600).
Ascher syndrome
MedGen UID:
137910
Concept ID:
C0339085
Disease or Syndrome
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Spinocerebellar ataxia type 2
MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Ocular cicatricial pemphigoid
MedGen UID:
266181
Concept ID:
C1282359
Disease or Syndrome
A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness.
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma
MedGen UID:
231158
Concept ID:
C1321495
Congenital Abnormality
Laryngo-onycho-cutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.\n\nOne of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.\n\nIn LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.\n\nAnother common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.\n\nLOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.
Prepapillary vascular loop
MedGen UID:
316814
Concept ID:
C1828066
Congenital Abnormality
Deafness, autosomal recessive 12
MedGen UID:
330455
Concept ID:
C1832394
Disease or Syndrome
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.
Setting-sun phenomenon, familial benign
MedGen UID:
318913
Concept ID:
C1833577
Disease or Syndrome
Macrothrombocytopenia and Progressive Sensorineural Deafness
MedGen UID:
371830
Concept ID:
C1834478
Disease or Syndrome
Myelinated optic nerve fibers
MedGen UID:
320388
Concept ID:
C1834600
Finding
Cutaneous malignant melanoma 1
MedGen UID:
320506
Concept ID:
C1835047
Finding
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003).
Levator-medial rectus synkinesis
MedGen UID:
320592
Concept ID:
C1835403
Disease or Syndrome
Oculomotor-levator synkinesis (OCLEVS) is characterized by abnormal eyelid elevation or retraction during ipsilateral adduction. The disorder most likely results from aberrant innervation of extraocular muscles by the oculomotor nerve (cranial nerve III). Normally, the levator muscle is served by the superior branch of CN3 and the medial rectus muscle is served by the inferior branch of CN3. The clinical features suggest synkinesis between the medial rectus and levator muscle branches. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD) and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Pang et al., 1986 and Khan et al., 2004) See also oculomotor-abducens synkinesis (OCABSN; 619215), caused by mutation in the ACKR3 gene (610376) on chromosome 2q37.
Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Sudden infant death with dysgenesis of the testes syndrome
MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020).
Fryns macrocephaly
MedGen UID:
373933
Concept ID:
C1838281
Disease or Syndrome
A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Chromosome 8Q12.1-q21.2 deletion syndrome
MedGen UID:
333071
Concept ID:
C1838346
Disease or Syndrome
Unique green phenomenon
MedGen UID:
326816
Concept ID:
C1839116
Disease or Syndrome
X-linked corneal dermoid
MedGen UID:
375481
Concept ID:
C1844671
Disease or Syndrome
An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
Albinism-hearing loss syndrome
MedGen UID:
375573
Concept ID:
C1845068
Disease or Syndrome
Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Brachyolmia type 1, Hobaek type
MedGen UID:
338605
Concept ID:
C1849055
Disease or Syndrome
Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; 613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; 113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.
Nemaline myopathy 2
MedGen UID:
342534
Concept ID:
C1850569
Disease or Syndrome
Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).
Schopf-Schulz-Passarge syndrome
MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001).
Otospondylomegaepiphyseal dysplasia, autosomal dominant
MedGen UID:
349293
Concept ID:
C1861481
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Pupil, egg-shaped
MedGen UID:
357979
Concept ID:
C1867405
Congenital Abnormality
Gaucher disease type I
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Tented eyebrows
MedGen UID:
370710
Concept ID:
C1969624
Finding
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.
Dystonia with cerebellar atrophy
MedGen UID:
392987
Concept ID:
C2673697
Disease or Syndrome
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.
Osteogenesis imperfecta type 5
MedGen UID:
419332
Concept ID:
C2931093
Disease or Syndrome
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V, in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012).
Infantile-onset ascending hereditary spastic paralysis
MedGen UID:
419413
Concept ID:
C2931441
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (Le Goff et al., 2016).
Cross syndrome
MedGen UID:
423639
Concept ID:
C2936910
Disease or Syndrome
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
Spondyloepiphyseal dysplasia Maroteaux type
MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Polymicrogyria, asymmetric
MedGen UID:
765150
Concept ID:
C3552236
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Peroxisome biogenesis disorder 13A
MedGen UID:
766918
Concept ID:
C3554004
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see 214100.
Hypercalcemia, infantile, 1
MedGen UID:
934200
Concept ID:
C4310232
Disease or Syndrome
Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). Genetic Heterogeneity Infantile hypercalcemia-2 (HCINF2; 616963) is caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35.
Witteveen-kolk syndrome
MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.\n\n15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).
Xeroderma pigmentosum, group F
MedGen UID:
120612
Concept ID:
C0268140
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Sjogren-Larsson-like ichthyosis without CNS or eye involvement
MedGen UID:
336532
Concept ID:
C1849195
Disease or Syndrome
Ectodermal dysplasia 9, hair/nail type
MedGen UID:
767041
Concept ID:
C3554127
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).
Otospondylomegaepiphyseal dysplasia, autosomal recessive
MedGen UID:
1617409
Concept ID:
C4520892
Disease or Syndrome
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).

Recent clinical studies

Etiology

Adekoya BJ, Balogun MM, Balogun BG, Ngwu RA
Int Ophthalmol 2015 Jun;35(3):311-7. Epub 2014 Apr 18 doi: 10.1007/s10792-014-9946-4. PMID: 24743944
DeSantis D
Pediatr Clin North Am 2014 Jun;61(3):505-18. Epub 2014 Apr 14 doi: 10.1016/j.pcl.2014.03.006. PMID: 24852148
Halfeld Furtado de Mendonça R, Abbruzzese S, Bagolini B, Nofroni I, Ferreira EL, Odom JV
Int Ophthalmol 2013 Oct;33(5):515-9. Epub 2013 Feb 16 doi: 10.1007/s10792-013-9734-6. PMID: 23417145Free PMC Article
Wang Y, Liang YB, Sun LP, Duan XR, Yuan RZ, Wong TY, Yi P, Friedman DS, Wang NL, Wang JJ
Ophthalmology 2011 Feb;118(2):279-83. Epub 2010 Sep 24 doi: 10.1016/j.ophtha.2010.05.026. PMID: 20869774
Morrison DG, Emanuel M, Donahue SP
J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):141-4. Epub 2010 May 20 doi: 10.3928/01913913-20100505-05. PMID: 20506997

Diagnosis

DeSantis D
Pediatr Clin North Am 2014 Jun;61(3):505-18. Epub 2014 Apr 14 doi: 10.1016/j.pcl.2014.03.006. PMID: 24852148
Wang Y, Liang YB, Sun LP, Duan XR, Yuan RZ, Wong TY, Yi P, Friedman DS, Wang NL, Wang JJ
Ophthalmology 2011 Feb;118(2):279-83. Epub 2010 Sep 24 doi: 10.1016/j.ophtha.2010.05.026. PMID: 20869774
Morrison DG, Emanuel M, Donahue SP
J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):141-4. Epub 2010 May 20 doi: 10.3928/01913913-20100505-05. PMID: 20506997
Karki KJ
Kathmandu Univ Med J (KUMJ) 2006 Oct-Dec;4(4):470-3. PMID: 18603956
O'Doherty M, Lanigan B, Breathnach F, O'Meara A, Gallie B, Chan H, O'Keefe M
Ir Med J 2005 Jan;98(1):17-20. PMID: 15782728

Therapy

Wang Y, Liang YB, Sun LP, Duan XR, Yuan RZ, Wong TY, Yi P, Friedman DS, Wang NL, Wang JJ
Ophthalmology 2011 Feb;118(2):279-83. Epub 2010 Sep 24 doi: 10.1016/j.ophtha.2010.05.026. PMID: 20869774

Prognosis

Morrison DG, Emanuel M, Donahue SP
J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):141-4. Epub 2010 May 20 doi: 10.3928/01913913-20100505-05. PMID: 20506997
Chua B, Mitchell P
Br J Ophthalmol 2004 Sep;88(9):1119-21. doi: 10.1136/bjo.2004.041863. PMID: 15317699Free PMC Article

Clinical prediction guides

Morrison DG, Emanuel M, Donahue SP
J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):141-4. Epub 2010 May 20 doi: 10.3928/01913913-20100505-05. PMID: 20506997
Lennerstrand G
Acta Ophthalmol Scand 2007 Nov;85(7):711-23. doi: 10.1111/j.1600-0420.2007.00853.x. PMID: 17944625
Gao L, Qin W, Cui H, Feng G, Liu P, Gao W, Ma L, Li P, He L, Fu S
J Hum Genet 2005;50(6):305-310. Epub 2005 Jun 3 doi: 10.1007/s10038-005-0251-y. PMID: 15933805
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH
Hum Mol Genet 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665. PMID: 9158139
Umeda Y, Sakata E
Ann Otol Rhinol Laryngol 1978 May-Jun;87(3 Pt 1):392-8. doi: 10.1177/000348947808700319. PMID: 655580

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