Acrofrontofacionasal Dysostosis, Severe

Alternative Names

  • Affn Dysostosis 2
  • AFFND2
  • Acrofrontofacionasal Dysostosis with Genitourinary Anomalies
  • Naguib-Richieri-Costa Syndrome
  • Hypertelorism, Hypospadias, and Polysyndactyly Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

239710

Mode of Inheritance

Autosomal recessive

Description

Acrofrontofacionasal dysostosis 2, also referred to as Naguib-Richieri-Costa syndrome, is a very rare congenital abnormality portrayed in fewer than 10 cases in both sexes. At birth, the diagnosis is suspended based on the clinical aspect characterized by facial and other abnormalities: hypertelorism, eye anomalies, broad notched nasal tip, cleft lip palate, camptodactyly, brachydactyly, and polysyndactyly of fingers and toes, abnormalities of the feet, and hypospadias. Also, severe mental retardation is common.

Molecular Genetics

To date, the molecular pathology behind acrofrontofacionasal dysostosis 2 remains unknown. Yet, normal chromosomes, parental consanguinity, and affected sibs suggests autosomal recessive inheritance of this disorder.

Epidemiology in the Arab World

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Other Reports

Kuwait

At the Maternity Hospital in Kuwait, Naguib (1988) reported a Kuwaiti infant girl suffering from hypertelorism, proptosis, ptosis, hypospadias, slanted palpebral fissures, telecanthus, shawl scrotum, and polydactyly. The subject was born to phenotypically normal first cousin mother and father aged 30 and 40 years, respectively, she had two similarly affected brothers and one normal sister. The patient weighed 3.150kg following spontaneous vaginal delivery and went through the removal of congenital lower central incisors. The three sibs suffered from marked hypertelorism, downslanting palpebral fissures, ptosis of eyelids, broad nasal bridge and tip with midline groove, dysmorphic pinna, variable soft tissue syndactyly of fingers 2-4, hypospadias, shawl scrotum, and normal psychomotor development.

Tunisia

Chaabouni et al. (2008) reported a 22-day-old Tunisian boy who presented facial midline abnormalities correlated with limb and genitourinary abnormalities. He was born to first cousin parents (F = 1/16). The subject suffered from wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, colomboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyly between fingers 3 and 4, hypoplastic 3rd, 4th, and 5th toes with nail dysplasia, hypospadias with cleft glans, bifid scrotum. The patient underwent an MRI which demonstrated right frontal encephalocele with abnormalities with the cortical gyration without any corpus callosum abnormality.

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