Short stature-brachydactyly-obesity-global developmental delay syndrome


Engelsk navn: Short stature-brachydactyly-obesity-global developmental delay syndrome
Engelske synonym: SBIDDS


Definisjon

A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.

Fra Orphanet

ORPHA: 464288
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

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Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
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