Gorlin-Chaudhry-Moss syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Gorlin-Chaudhry-Moss Syndrome (GCM) is a very rare congenital disease with a combination of craniofacial malformation , hearing loss , general hypertrichosis and other malformations .

Synonyms are: GCM syndrome; Craniofacial dysostosis with genital, dental and cardiac abnormalities; Craniofacial dysostosis-hypertrichosis-hypoplasia of the labia majora syndrome; English Fontaine progeroid syndrome; Progeroid Syndrome, Congenital, Petty Type

The first description comes from 1960 by the US doctors Robert J. Gorlin, Anand P. Chaudhry and Melvin l. Moss.

The other names refer to publications from 1977 by the French G. Fontaine and colleagues and 1990 by Elisabeth M. Petty, Renata Laxowa and Hans-Rudolf Wiedemann.

distribution

The frequency is given as less than 1 in 1,000,000, so far 7 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in SLC25A24 - gene on chromosome 1 locus p13.3 basis.

Clinical manifestations

Clinical criteria are:

Face: concave facial profile, bulging forehead, deep-set eyes, protruding mouth, everted broad lower lip, antimongoloid eyelid axis, blepharophimosis , narrow auditory canals, hypoplasia of the zygomatic arch, maxilla and mandible, receding chin, hypodontia , partial microdontia

Skull: Craniosynostosis of the coronary suture, temporal bone lordosis, clivus hypoplasia, brachycephaly , turricephalus

Eyes: Astigmatism , hyperopia , reduced accommodation reaction, partial corneal opacity, horizontal nystagmus, poor eyelid closure, eyelid coloboma, microphthalmia , persistent pupillary membrane

mild conductive hearing loss

open ductus botalli

Umbilical hernia

Hypoplasia of the labia minora

general hypertrichosis

Short stature , moderate development delay

Skeleton: hypoplasia of the phalanges, nails, cutaneous syndactyly , lack of flexion folds of the thumbs, individual transverse palmar folds

Differential diagnosis

The Saethre-Chotzen syndrome is to be distinguished .

history

Fontaine's Progeroid Syndrome and Gorlin-Chaudhry-Moss Syndrome were originally considered to be separate diseases. After the same gene mutation could be detected in affected patients, both clinical pictures are rated as different forms of disease.

literature

N. Ehmke, L. Graul-Neumann, L. Smorag, R. Koenig, L. Segebrecht, P. Magoulas, F. Scaglia, E. Kilic, AF Hennig, N. Adolphs, N. Saha, B. Fauler, VM Kalscheuer, F. Hennig, J. Altmüller, C. Netzer, H. Thiele, P. Nürnberg, G. Yigit, M. Jäger, J. Hecht, U. Krüger, T. Mielke, PM Krawitz, D. Horn, M Schuelke, S. Mundlos, CA Bacino, PE Bonnen, B. Wollnik, B. Fischer-Zirnsak, U. Kornak: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. In: American Journal of Human Genetics . Volume 101, number 5, November 2017, pp. 833-843, doi: 10.1016 / j.ajhg.2017.09.016 , PMID 29100093 , PMC 5673623 (free full text).
RO Rosti, K. Karaer, B. Karaman, D. Torun, S. Guran, M. Bahce: Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype. In: American journal of medical genetics. Part A. Volume 161A, number 7, July 2013, pp. 1737–1742, doi: 10.1002 / ajmg.a.35954 , PMID 23686885 .
PF Ippel, RJ Gorlin, W. Lenz, JM van Doorne, JB Bijlsma: Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. In: American journal of medical genetics. Volume 44, Number 4, November 1992, pp. 518-522, doi: 10.1002 / ajmg.1320440428 , PMID 1442899 .

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e Gorlin-Chaudhry-Moss syndrome. In: Orphanet (Rare Disease Database).
↑ RJ Gorlin, AP Chaudhry, ML Moss: Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome? In: The Journal of pediatrics. Vol 56, June 1960, pp. 778-785, PMID 13851313 .
↑ G. Fontaine, JP Farriaux, D. Blanckaert, C. Lefebvre: [A new complex polymalformative syndrome (author's transl)]. In: Journal de genetique humaine. Volume 25, Number 2, June 1977, pp. 109-119, PMID 21227 .
^ EM Petty, R. Laxova, HR Wiedemann: Previously unrecognized congenital progeroid disorder. In: American journal of medical genetics. Volume 35, Number 3, March 1990, pp. 383-387, doi: 10.1002 / ajmg.1320350314 , PMID 2309786 .
↑ Fontaine progeroid syndrome. In: Online Mendelian Inheritance in Man . (English)

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Gorlin-Chaudhry-Moss syndrome. In: Orphanet (Rare Disease Database).

[3] RJ Gorlin, AP Chaudhry, ML Moss: Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome? In: The Journal of pediatrics. Vol 56, June 1960, pp. 778-785, PMID 13851313 .

[4] G. Fontaine, JP Farriaux, D. Blanckaert, C. Lefebvre: [A new complex polymalformative syndrome (author's transl)]. In: Journal de genetique humaine. Volume 25, Number 2, June 1977, pp. 109-119, PMID 21227 .

[5] EM Petty, R. Laxova, HR Wiedemann: Previously unrecognized congenital progeroid disorder. In: American journal of medical genetics. Volume 35, Number 3, March 1990, pp. 383-387, doi: 10.1002 / ajmg.1320350314 , PMID 2309786 .

[6] Fontaine progeroid syndrome. In: Online Mendelian Inheritance in Man . (English)