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Aymé-Gripp syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.


Classification level: Disorder
  • Synonym(s):
    • Brachycephaly-deafness-cataract-intellectual disability syndrome
    • Brachycephaly-hearing loss-cataract-intellectual disability syndrome
    • Fine-Lubinsky syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 601088  601353
  • UMLS: C0795941
  • MeSH: C537933
  • GARD: 958
  • MedDRA: -

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.