Short stature-brachydactyly-obesity-global developmental delay syndrome

Orpha code: 464288OMIM code: 617157

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
SBIDDS
SBIDDS
ORPHA code
464288
OMIM code
617157
ICD10 code
-
ICD11 code
-

No additional description.

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