Microphthalmia with Limb Anomalies

Alternative Names

  • MLA
  • Anophthalmia with Limb Anomalies
  • Waardenburg Anophthalmia Syndrome
  • Anophthalmia-Syndactyly
  • Ophthalmoacromelic Syndrome
  • Waardenburg Recessive Anophthalmia Syndrome
  • Anophthalmia-Waardenburg Syndrome
  • Anophthalmos-Limb Anomalies Syndrome
  • Crooked Fingers Syndrome
  • Syndactyly-Anophthalmos Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

206920

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q24.2

Description

Waardenburg Anophthalmia Syndrome (WAS) is a rare developmental disorder associated with anophthalmia (absence of the eye) or microphthalmia, and various limb malformations. Consanguinity was noted in 90% of the families reported with WAS. The most common and distinctive foot abnormality is the presence of only four toes bilaterally. Most studied cases showed a wide gap between the 1st and 2nd toes. Joint laxity, club foot, valgus deformity, hypoplastic fibula, bowed tibia, and hip dislocation were observed in some cases. About 75% of the cases had abnormalities in both hands with the most distinctive abnormality of basal synostosis of the fourth and fifth metacarpals. Also, camptodactyly affecting the second through fifth fingers was noted in several cases. About 50% of the patients showed postnatal growth delay. Severe mental retardation was also present in 50% of the reported cases.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
206920.1.1LebanonMaleYes Anophthalmia; 2-3 finger syndactyly; ...NM_015308.5:c.683C>THomozygousAutosomalMegarbane et al. 1998; Kondo et al, 2013
206920.2LebanonMaleYes Anophthalmia; Unilateral oligodactyly; ...NM_001034852.3:c.664+1G>AHomozygousAutosomal, RecessiveOkada et al. 2011; Hamanoue et al. 2009
206920.3LebanonMaleYes Cutaneous syndactyly; Horseshoe kidney; ...NM_001034852.2:c.910delHomozygousAutosomal, RecessiveRainger et al. 2011

Other Reports

Syria

Al-Gazali et al, 1994, described the clinical features of a male child of Syrian origin, born to consanguineous parents, who presented with ophthalmoacromelic syndrome. At birth, he was found to have an asymmetric head with frontal bossing, down-slanting palpebral fissures, flat malar areas, short fifth fingers with lateral deviation, missing fifth toes, and a wide space between the first and the big toe. At 8-months of age, the patient was found to have no sight in his right eye, as well as a slight delay in motor development.

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