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Items: 3

1.

Odonto-onycho-dermal dysplasia

Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019). [from OMIM]

MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
2.

Stüve-Wiedemann syndrome 1

Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11. [from OMIM]

MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
3.

Smooth tongue

Glossy appearance of the entire tongue surface. [from HPO]

MedGen UID:
510156
Concept ID:
C0155964
Disease or Syndrome
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