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Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

MedGen UID:
98033
Concept ID:
C0406718
Congenital Abnormality
Synonyms: Salamon syndrome; Salamon's syndrome; Woolly hair hypotrichosis everted lower lip and outstanding ears; Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
SNOMED CT: Salamon syndrome (239023005); Salamon's syndrome (239023005)
 
Monarch Initiative: MONDO:0010207
OMIM®: 278200
Orphanet: ORPHA1409

Clinical features

From HPO
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Everted lower lip vermilion
MedGen UID:
344003
Concept ID:
C1853246
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

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