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GENATLAS PHENOTYPE
last update : 10-01-2018
Symbol GCMS
Location 1p13.3
Name Gorlin-Chaudhry-Moss syndrome
Corresponding gene SLC25A24
Main clinical features
  • stocky body build, hypertrichosis, craniosynostosis, conductive hearing loss, normal intelligence, hyperopia, facial dysmorphism, dental anomalies, hypoplastic distal phalanges, umbilical hernia, and genital hypoplasia
  • brachycephaly (coronal craniosynostosis), low anterior hairline, coarse hair, midface hypoplasia, short palpebral fissures, microphthalmia
  • variable lipoatrophy and cutis laxa are the basis for a progeroid appearance
  • Genetic determination autosomal recessive
    Related entries including progeroid syndrome, congenital, Petty type (OMIM: 612289), with different facial dysmorphism: differences include some facial characteristics (shape of the nasal ridge, eye size, and chin size), genital development (PMID: 29100094)
    Function/system disorder osteo-articular
    ear
    Type disease
    Remark(s) . SLC25A24 mutations influence the formation or opening of the mPTP (PMID: 29100093))