Orphanet: Cognitive impairment coarse facies heart defects obesity pulmonary involvement short stature skeletal dysplasia syndrome

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Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.

ORPHA:444077

Classification level: Disorder

Synonym(s):
- CHOPS syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Not applicable
Age of onset: Antenatal, Neonatal
ICD-10: Q87.8
OMIM: 616368
UMLS: -
MeSH: -
GARD: 12845
MedDRA: -

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Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

ORPHA:444077

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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