Disease: Fontaine Progeroid Syndrome

Name Fontaine Progeroid Syndrome

Synonyms CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE , GORLIN-CHAUDHRY-MOSS SYNDROME; GCMS , PROGEROID SYNDROME, CONGENITAL, PETTY TYPE

Classification developmental, genetic, skin

Phenotypes Abnormal heart morphology; Abnormality of the pinna; Absent distal phalanges; Absent nipple; Anonychia; Anteriorly placed anus; Aortic aneurysm; Aplastic/hypoplastic lacrimal glands; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachycephaly; Broad forehead; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Coarse hair; Conductive hearing impairment; Congenital onset; Convex nasal ridge; Coronal craniosynostosis; Cryptorchidism; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Dermal translucency; Downslanted palpebral fissures; Everted lower lip vermilion; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; High, narrow palate; Hydrocephalus; Hypermetropia; Hypertelorism; Hypertrichosis; Hypoplasia of the abdominal wall musculature; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic nipples; Intrauterine growth retardation; Left ventricular hypertrophy; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Mandibular prognathia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscle weakness; Narrow mouth; Oligodontia; Oligohydramnios; Patent ductus arteriosus; Periventricular heterotopia; Platyspondyly; Pneumothorax; Posteriorly rotated ears; Premature skin wrinkling; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Pulmonary hypoplasia; Recurrent aspiration pneumonia; Reduced subcutaneous adipose tissue; Redundant skin; Respiratory insufficiency; Retrognathia; Scoliosis; Scrotal hypoplasia; Short distal phalanx of finger; Short nose; Short palpebral fissure; Short stature; Small nail; Smooth philtrum; Sparse scalp hair; Syndactyly; Synophrys; Thin upper lip vermilion; Triangular face; Tricuspid regurgitation; Turricephaly; Umbilical hernia; Underdeveloped supraorbital ridges; Wide anterior fontanel

Associated Genes SLC25A24 (Withdrawn symbols: APC1, DKFZp586G0123 )

Mouse Orthologs Slc25a24 (Withdrawn symbols: 2610016M12Rik )

Source OMIM:612289 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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