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Noonan syndrome-like disorder with loose anagen hair
rareNoonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.
- Identifiers
- MONDO:0011899 Orphanet:2701
- Part of
- Noonan syndrome and Noonan-related syndromeLoose anagen syndromeMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- Noonan-like syndrome with loose anagen hair · NS/LAH · NSLH · NSLH1 · Tosti syndrome
Subtypes
Rare disease
Projects
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