Gorlin-Chaudhry-Moss syndrome

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(72.9%)		 7554354
 Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?
Preis S, Kaewel EV, Majewski F.
Clin Genet. 1995;47(5):267-9.
Narrow palate Short finger Slanting of the palpebral fissure
Child, Preschool Differential Diagnosis Females Homo sapiens Syndrome
2
(39.0%)		 30329211
 A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Rodriguez-Garcia ME, Cotrina-Vinagre FJ, Cruz-Rojo J, Garzon-Lorenzo L, Carnicero-Rodriguez P, Pozo JS, Martinez-Azorin F.
Am J Med Genet A. 2018;176(11):2479-2486.
Wide anterior fontanel
SLC25A24
c|SUB|G|650|A p|SUB|R|217|H
Amino Acid Sequence Base Sequence Calcium-Binding Proteins Child Child, Preschool Craniofacial Abnormalities Females Growth Disorders Homo sapiens Hypertrichosis Infant Infant, Newborn Male Mitochondrial Proteins Mutation Progeria Syndrome
3
(4.0%)		 23686885
 Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
Rosti RO, Karaer K, Karaman B, Torun D, Guran S, Bahce M.
Am J Med Genet A. 2013;161A(7):1737-42.
Hypertrichosis
Child, Preschool Chromosomes, Human, Pair 12 Congenital Hand Deformities Craniofacial Abnormalities DNA Copy Number Variations Females Growth Disorders Homo sapiens Hypertrichosis Infant Larynx Nose Phenotype Progeria Toes
3
(4.0%)		 21910232
 Two sisters resembling Gorlin-Chaudhry-Moss syndrome.
Aravena T, Passalacqua C, Pizarro O, Aracena M.
Am J Med Genet A. 2011;155A(10):2552-5.
Hypoplastic labia majora
Craniofacial Abnormalities Fatal Outcome Females Growth Disorders Homo sapiens Hypertrichosis Progeria X-Ray Computed Tomography
3
(4.0%)		 21216154
 Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report.
Adolphs N, Klein M, Haberl EJ, Graul-Neumann L, Menneking H, Hoffmeister B.
J Craniomaxillofac Surg. 2011;39(8):554-61.
Hypertrichosis
rs1553253989
Anti-Bacterial Agents Child Craniofacial Abnormalities Craniosynostosis Debridement Females Follow-Up Studies Growth Disorders Homo sapiens Hypertrichosis Internal Fixators Maxilla Necrosis Osteogenesis, Distraction Osteotomy, Le Fort Progeria Scalp Dermatoses Skin Transplantation Soft Tissue Infection Surgical Wound Infection
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000294 Low anterior hairline Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000478 Abnormality of the eye Very frequent (99-80%)
HP:0000492 Abnormal eyelid morphology Very frequent (99-80%)
HP:0000504 Abnormality of vision Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000677 Oligodontia Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001760 Abnormality of the foot Very frequent (99-80%)
HP:0002208 Coarse hair Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004440 Coronal craniosynostosis Very frequent (99-80%)
HP:0008497 Congenital craniofacial dysostosis Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0009891 Underdeveloped supraorbital ridges Very frequent (99-80%)
HP:0000327 Hypoplasia of the maxilla Frequent (79-30%)
HP:0000483 Astigmatism Frequent (79-30%)
HP:0000647 Sclerocornea Frequent (79-30%)
HP:0000929 Abnormal skull morphology Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0010940 Aplasia/Hypoplasia of the nasal bone Frequent (79-30%)
HP:0000636 Upper eyelid coloboma Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000998 Hypertrichosis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC25A24 solute carrier family 25 member 24 29957