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Items: 9

1.

ATRIOVENTRICULAR SEPTAL DEFECT 3

MedGen UID:
477381
Concept ID:
C3275750
Disease or Syndrome
2.

PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL DOMINANT

MedGen UID:
462818
Concept ID:
C3151468
Disease or Syndrome
3.

Craniometaphyseal dysplasia, autosomal recessive type

MedGen UID:
419753
Concept ID:
C2931244
Disease or Syndrome
4.

Oculodentodigital dysplasia, autosomal recessive

MedGen UID:
412708
Concept ID:
C2749477
Disease or Syndrome
5.

Syndactyly type 3

A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner. [from SNOMEDCT_US]

MedGen UID:
396117
Concept ID:
C1861366
Disease or Syndrome
6.

Deafness, autosomal recessive

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
337623
Concept ID:
C1846647
Disease or Syndrome
7.

Oculodentodigital dysplasia

Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant. [from OMIM]

MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality; Disease or Syndrome
8.

Erythrokeratodermia variabilis

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Patients with erythrokeratodermia variabilis due to mutation in the GJA1 gene have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015). [from OMIM]

MedGen UID:
75587
Concept ID:
C0265961
Congenital Abnormality; Disease or Syndrome
9.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). Genetic Heterogeneity of Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome-2 (HLHS2; 614435) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35.1. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with HLHS. [from OMIM]

MedGen UID:
57746
Concept ID:
C0152101
Congenital Abnormality; Disease or Syndrome
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