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Acro-renal-mandibular syndrome

F Halal, M F Desgranges, B Leduc

American Journal of Medical Genetics

|January 1, 1980

Summary

Two sisters presented with severe split-hand/split-foot malformation, renal, genital, and mandibular anomalies. Autosomal recessive inheritance is suspected due to parental consanguinity, though dominant inheritance is also considered.

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Split-hand/split-foot malformation (SHFM) is a rare congenital limb anomaly.
SHFM can occur in isolation or as part of various genetic syndromes.
Syndromic forms of SHFM often involve other organ systems, including renal and genital development.

Observation:

Two female siblings presented with severe SHFM.
Associated anomalies included renal and genital malformations, and severe mandibular hypoplasia.
Minor anomalies were also noted in the affected individuals.

Findings:

The clinical presentation suggests a potential genetic syndrome involving limb, renal, genital, and craniofacial development.
Parental consanguinity raises the possibility of autosomal recessive inheritance.
Maternal uterine anomalies and a sibling's renal anomaly suggest potential dominant inheritance with variable expressivity.

Implications:

This case highlights the complex genetic etiology of syndromic SHFM.
Further genetic investigation is needed to elucidate the specific inheritance pattern and causative genes.
Understanding the genetic basis of such syndromes is crucial for accurate diagnosis, genetic counseling, and potential therapeutic strategies.

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