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Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Disease definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.

ORPHA:459061

Classification level: Disorder
  • Synonym(s):
    • Developmental delay-short stature-dysmorphic features-sparse hair syndrome
    • Loucks-Innes syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: 616901
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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