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GENATLAS PHENOTYPE

last update : 03-01-2019

Symbol	NPROS
Location	10q22.3
Name	neonatal progeroid syndrome
Other name(s)	Wiedemann-Rautenstrauch syndrome
Corresponding gene	POLR3A
Other symbol(s)	WRS
Main clinical features	variable clinical features such as intrauterine growth restriction (IUGR) and poor postnatal weight gain, characteristic facial features (triangular face, convex nasal profile or pinched nose, and small mouth, thin lips, and sparse hair), widened fontanelles, pseudohydrocephalus prominent scalp veins, lipodystrophy, and teeth abnormalities, near-total loss of permanent dentition, congenital fractures, lower-limb contractures, patellar dislocation, mandibular hypoplasia, thyroglossal cyst
Genetic determination	autosomal recessive
Function/system disorder	connective tissue
	dermatology
	osteo-articular
Type	disease

Remark(s)