Little Women syndrome

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Little Women syndrome2016-10-22T14:50:52+00:00

Little Women syndrome

LIttle Women image from New Medical Terms

LIttle Women

GENETICS

Definition A variant of Laron dwarfism (OMIM:262500), seen in an inbred population of Spanish descendents living in the Loja province of southern Ecuador. It almost exclusively affects women as the mutated gene–GHR (which encodes growth hormone receptor) is linked to a trait that is lethal in males.

Rosenbloom et al (1999) noted that the kindred was descended from “conversos”, Spanish Jews who became Catholic during the Inquisition. 

Clinical findings Blue sclera, limited elbow extensibility, short extremities, high-pitched voices, hip dysplasia in adults

Lab Reduced growth hormone-binding protein, reduced IGF-1 

Molecular pathology Defects of GHR, which encodes growth hormone receptor, cause the little women syndrome.

Laron dwarfism is an autosomal recessive condition with a high incidence of consanguinity, small facies, micrognathia, prominent forehead, saddle nose, sparse slow-growing hair, poor dentition, small hands and feet, high-pitched voice in children and hypoglycaemia

Synonym Little women of Loja

Reference http://www.omim.org/entry/262500 

http://www.uniprot.org/uniprot/Q7Z6Z7

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