Scalp-ear-nipple syndrome
MONDO:0008404Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
Also known as: Finlay-Marks syndrome, scalp-ear-nipple syndrome, SENS, Sen syndrome, hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples, scalp ear nipple syndrome, scalp-EAR-nipple syndrome
11 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Skin disorder
(123)
Syndromic disease
(24)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Hereditary skin disorder
(5)
Ectodermal dysplasia syndrome
(3)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)