Orphanet: Distal limb deficiencies micrognathia syndrome

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Distal limb deficiencies-micrognathia syndrome

Disease definition

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

ORPHA:1307

Classification level: Disorder

Synonym(s):
- 10q24 microduplication syndrome
- Buttiens-Fryns syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal
ICD-10: Q92.3
ICD-11: LD41.90
OMIM: 246560
UMLS: -
MeSH: -
GARD: 3252
MedDRA: -

Summary

Epidemiology

It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency.

Clinical description

Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia.

Etiology

Using high resolution oligoarray-based comparative genomic hybridization (aCGH), a 10q24 duplication or triplication was recently detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation (SHFM; see this term).

- Last update: June 2010

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Distal limb deficiencies-micrognathia syndrome

ORPHA:1307

Summary

Epidemiology

Clinical description

Etiology

A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

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