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Items: 5

1.

Feingold syndrome 1

Feingold syndrome 1 is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild to moderate learning disability. [from GeneReviews]

MedGen UID:
163209
Concept ID:
C0796068
Disease or Syndrome
2.

Cryptophthalmos

Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. [from HPO]

MedGen UID:
81386
Concept ID:
C0311249
Congenital Abnormality
3.

Distal symphalangism of hands

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. [from HPO]

MedGen UID:
350607
Concept ID:
C1862158
Finding
4.

Megarbane syndrome

MedGen UID:
339864
Concept ID:
C1847871
Disease or Syndrome
5.

Cryptophthalmos syndrome

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation (summary by Slavotinek et al., 2006). See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations. [from OMIM]

MedGen UID:
82692
Concept ID:
C0265233
Congenital Abnormality; Disease or Syndrome
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