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Items: 12

1.

CHARGE association

CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
2.

Autosomal recessive osteopetrosis 5

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004). [from OMIM]

MedGen UID:
409627
Concept ID:
C1968603
Disease or Syndrome
3.

Stüve-Wiedemann syndrome 1

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. [from ORDO]

MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
4.

Menke-Hennekam syndrome 2

Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332). [from OMIM]

MedGen UID:
1676668
Concept ID:
C5193035
Disease or Syndrome
5.

Menke-Hennekam syndrome 1

Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. Genetic Heterogeneity of Menke-Hennekam Syndrome Menke-Hennekam syndrome-2 (MKHK2; 618333) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene (602700). Mutation elsewhere in that gene results in RSTS2 (613684). [from OMIM]

MedGen UID:
1675629
Concept ID:
C5193034
Disease or Syndrome
6.

Intellectual developmental disorder with seizures and language delay

SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues. [from GeneReviews]

MedGen UID:
1740295
Concept ID:
C5436574
Disease or Syndrome
7.

Intellectual disability, autosomal recessive 65

MedGen UID:
1648401
Concept ID:
C4748219
Mental or Behavioral Dysfunction
8.

Chromosome 8q21.11 deletion syndrome

The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by Palomares et al., 2011). [from OMIM]

MedGen UID:
481861
Concept ID:
C3280231
Disease or Syndrome
9.

Orofaciodigital syndrome 18

Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016). [from OMIM]

MedGen UID:
1799326
Concept ID:
C5567903
Disease or Syndrome
10.

Intellectual disability, X-linked 2

Nonsyndromic mental retardation with a large head, relatively short stature, highly arched palate, square facies, short hands and feet, and macroorchidism. [from MCA/MR]

MedGen UID:
162922
Concept ID:
C0796207
Mental or Behavioral Dysfunction
11.

Syndromic X-linked intellectual disability 12

X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. [from ORDO]

MedGen UID:
333405
Concept ID:
C1839792
Mental or Behavioral Dysfunction
12.

Square face

Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. [from HPO]

MedGen UID:
371253
Concept ID:
C1832127
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