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Frontofacionasal dysplasia

Disease definition

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

ORPHA:1791

Classification level: Disorder
  • Synonym(s):
    • Gollop syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q75.8
  • OMIM: 229400
  • UMLS: C2931720
  • MeSH: -
  • GARD: 2390
  • MedDRA: -

Summary

Epidemiology

Five cases have been reported so far.

Clinical description

The etiology remains unknown.

Genetic counseling

The syndrome is inherited in an autosomal recessive manner.

- Last update: March 2009

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.