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Mild short stature

MedGen UID:
461427
Concept ID:
C3150077
Finding
Synonym: Short stature, mild
 
HPO: HP:0003502

Definition

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMild short stature

Conditions with this feature

Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Pelger-Huët anomaly
MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Aarskog syndrome
MedGen UID:
61234
Concept ID:
C0175701
Disease or Syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.
Metaphyseal chondrodysplasia, Schmid type
MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.
Curry-Hall syndrome
MedGen UID:
141594
Concept ID:
C0457013
Disease or Syndrome
Weyers acrofacial dysostosis (WAD) is an autosomal dominant disorder with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997).
Nicolaides-Baraitser syndrome
MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.
Epiphyseal dysplasia, multiple, 3
MedGen UID:
322091
Concept ID:
C1832998
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Multiple epiphyseal dysplasia type 1
MedGen UID:
325376
Concept ID:
C1838280
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Epiphyseal dysplasia, multiple, 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Digitotalar dysmorphism; ulnar drift, hereditary
MedGen UID:
342156
Concept ID:
C1852085
Disease or Syndrome
Acrodysostosis 2 with or without hormone resistance
MedGen UID:
766164
Concept ID:
C3553250
Disease or Syndrome
Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).
Microcephalic primordial dwarfism due to RTTN deficiency
MedGen UID:
766745
Concept ID:
C3553831
Disease or Syndrome
A rare genetic neurodevelopmental disorder with primordial microcephaly, with characteristics of primary microcephaly, moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Germline biallelic variants in RTTN (18q22.2) are responsible for the disease. The pattern of inheritance is autosomal recessive.
Epiphyseal dysplasia, multiple, 7
MedGen UID:
1620874
Concept ID:
C4540251
Disease or Syndrome
Ehlers-Danlos syndrome, arthrochalasis type
MedGen UID:
1645042
Concept ID:
C4551623
Disease or Syndrome
Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).
Regressive spondylometaphyseal dysplasia
MedGen UID:
1648288
Concept ID:
C4747922
Disease or Syndrome
Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
MedGen UID:
1648332
Concept ID:
C4748496
Disease or Syndrome
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
MedGen UID:
1648291
Concept ID:
C4749014
Disease or Syndrome
Turnpenny-fry syndrome
MedGen UID:
1683283
Concept ID:
C5193060
Disease or Syndrome
Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).
Intellectual developmental disorder 59
MedGen UID:
1678593
Concept ID:
C5193190
Disease or Syndrome
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
MedGen UID:
1841001
Concept ID:
C5830365
Disease or Syndrome
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Affected individuals have significant speech delay, and most demonstrate behavioral abnormalities, including autistic features. About half of patients develop seizures, which may be controlled or refractory. More variable features include hypotonia, feeding difficulties, and subtle facial dysmorphism (Schalk et al., 2022).

Professional guidelines

PubMed

Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Wassner AJ
Paediatr Drugs 2017 Aug;19(4):291-301. doi: 10.1007/s40272-017-0238-0. PMID: 28534114
Wit JM
Pediatr Endocrinol Rev 2011 Sep;9 Suppl 1:538-40. PMID: 22423513

Recent clinical studies

Etiology

Lee D, Lee SH, Song J, Jee HJ, Cha SH, Chang GT
Phytother Res 2018 Jan;32(1):49-57. Epub 2017 Nov 12 doi: 10.1002/ptr.5886. PMID: 29130588
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M
Am J Med Genet A 2016 May;170A(5):1187-95. Epub 2016 Jan 8 doi: 10.1002/ajmg.a.37543. PMID: 26749367
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH
Nat Genet 2008 Aug;40(8):999-1003. Epub 2008 Jun 29 doi: 10.1038/ng.166. PMID: 18587396Free PMC Article
Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group
Growth Horm IGF Res 2007 Aug;17(4):307-14. Epub 2007 Apr 25 doi: 10.1016/j.ghir.2007.03.001. PMID: 17462934

Diagnosis

Nabais Sá MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J
J Med Genet 2022 Aug;59(8):776-780. Epub 2021 Aug 5 doi: 10.1136/jmedgenet-2020-107572. PMID: 34353863Free PMC Article
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N
BMC Med Genet 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. PMID: 32460719Free PMC Article
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group
Growth Horm IGF Res 2007 Aug;17(4):307-14. Epub 2007 Apr 25 doi: 10.1016/j.ghir.2007.03.001. PMID: 17462934
Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJ, Camacho-Hübner C
Horm Res 2001;55 Suppl 2:32-5. doi: 10.1159/000063471. PMID: 11684873

Therapy

Lee D, Lee SH, Song J, Jee HJ, Cha SH, Chang GT
Phytother Res 2018 Jan;32(1):49-57. Epub 2017 Nov 12 doi: 10.1002/ptr.5886. PMID: 29130588
Yanagihara T, Hayakawa M, Yoshida J, Tsuchiya M, Morita T, Murakami M, Fukunaga Y
Pediatr Nephrol 2005 May;20(5):585-90. Epub 2005 Mar 22 doi: 10.1007/s00467-005-1826-8. PMID: 15782302
Wieczorek D, Wüsthof A, Harms E, Meinecke P
Am J Med Genet 2001 Nov 15;104(1):47-52. doi: 10.1002/ajmg.1585. PMID: 11746027

Prognosis

Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
Jeong C, Lee JY, Kim J, Chae H, Park HI, Kim M, Kim OH, Kim P, Lee YK, Jung J
BMC Musculoskelet Disord 2014 Nov 8;15:371. doi: 10.1186/1471-2474-15-371. PMID: 25381065Free PMC Article
David A, Kelley LA, Sternberg MJ
J Mol Endocrinol 2012 Dec;49(3):213-20. Epub 2012 Oct 12 doi: 10.1530/JME-12-0086. PMID: 22991227
Yanagihara T, Hayakawa M, Yoshida J, Tsuchiya M, Morita T, Murakami M, Fukunaga Y
Pediatr Nephrol 2005 May;20(5):585-90. Epub 2005 Mar 22 doi: 10.1007/s00467-005-1826-8. PMID: 15782302
Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
Proc Natl Acad Sci U S A 1999 May 25;96(11):6296-300. doi: 10.1073/pnas.96.11.6296. PMID: 10339581Free PMC Article

Clinical prediction guides

Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N
BMC Med Genet 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. PMID: 32460719Free PMC Article
Lee D, Lee SH, Song J, Jee HJ, Cha SH, Chang GT
Phytother Res 2018 Jan;32(1):49-57. Epub 2017 Nov 12 doi: 10.1002/ptr.5886. PMID: 29130588
Sağlam H, Erdöl Ş, Dorum S
J Clin Res Pediatr Endocrinol 2017 Sep 1;9(3):229-236. Epub 2017 Jun 30 doi: 10.4274/jcrpe.4549. PMID: 28663156Free PMC Article
David A, Kelley LA, Sternberg MJ
J Mol Endocrinol 2012 Dec;49(3):213-20. Epub 2012 Oct 12 doi: 10.1530/JME-12-0086. PMID: 22991227
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L
Am J Hum Genet 1999 Apr;64(4):1036-44. doi: 10.1086/302328. PMID: 10090888Free PMC Article

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