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Items: 5

1.

Tel Hashomer camptodactyly syndrome

A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. [from SNOMEDCT_US]

MedGen UID:
347860
Concept ID:
C1859356
Disease or Syndrome
2.

Tricho-oculo-dermo-vertebral syndrome

MedGen UID:
355714
Concept ID:
C1866427
Disease or Syndrome
3.

Cardiofacioneurodevelopmental syndrome

Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020). [from OMIM]

MedGen UID:
1721861
Concept ID:
C5436852
Disease or Syndrome
4.

Dermal ridges, nelson syndrome

MedGen UID:
377606
Concept ID:
C1852161
Disease or Syndrome
5.

Abnormal dermatoglyphics

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [from HPO]

MedGen UID:
609464
Concept ID:
C0432333
Congenital Abnormality
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