MCID: GRL004
MIFTS: 31

Gorlin-Chaudhry-Moss Syndrome

Categories: Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Gorlin-Chaudhry-Moss Syndrome

MalaCards integrated aliases for Gorlin-Chaudhry-Moss Syndrome:

Name: Gorlin-Chaudhry-Moss Syndrome 53 49 24 55
Gorlin Chaudhry Moss Syndrome 49 24 69
Gcm Syndrome 49 24 55
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence 53 24
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies 49 24
Gcms 53 24
Dental and Eye Anomalies-Patent Ductus Arteriosus-Normal Intelligence Syndrome 55
Cranofacial Dysostosis-Hypertrichosis-Hypoplasia of Labia Majora Syndrome 55
Craniofacial Dysostosis-Genital, Dental, Cardiac Anomalies Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
gorlin-chaudhry-moss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
gorlin-chaudhry-moss syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gorlin-Chaudhry-Moss Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2095Disease definitionGorlin-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.EpidemiologyTo date, 7 cases of GCM have been described in the world literature and all patients are female with no known parental consanguinity.Clinical descriptionGCM is a congenital disorder in which patients present with a stocky body build, normal intelligence, coronal craniosynostosis, facial dysmorphism (brachy/turricephaly, low anterior and posterior hairline, coarse hair, synophrys, depressed supraorbital ridges, short and downslanted or upslanted palpebral fissures, ectropion of lower eyelid, underdeveloped ala nasi, prominent columella, midface hypoplasia, and underdeveloped small ears with increased posterior angulation), conductive hearing loss, ocular (coloboma of the eyelid (see this term), hyperopia, microphthalmia) and oro-dental (microdontia, irregularly shaped widely spaced teeth, oligodontia (see this term), narrow, and high arched narrow palate with medial cleft) anomalies and generalized hypertrichosis. Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases), umbilical hernia, and hypoplasia of labia majora are also observed. Other additional features that may be observed include congenital laryngomalacia and heart disease (patent arterial duct) (see these terms). Progeroid syndrome, Petty type and Saethre-Chotzen syndrome (see these terms) have overlapping features with GCM syndrome and should be considered in the differential diagnosis.EtiologyThe etiology is still unknown and, to date, no causative gene has been implicated in the physiopathology of GCM.Genetic counselingGCM is considered to be inherited in an autosomal recessive manner. However, the lack of consanguinity combined with the fact that all affected patients are female could suggest a de novo X-linked dominant disorder with male lethality.Visit the Orphanet disease page for more resources. Last updated: 11/19/2014

MalaCards based summary : Gorlin-Chaudhry-Moss Syndrome, also known as gorlin chaudhry moss syndrome, is related to giant cell myocarditis and dysostosis, and has symptoms including hypertelorism, nystagmus and umbilical hernia. An important gene associated with Gorlin-Chaudhry-Moss Syndrome is SLC25A24 (Solute Carrier Family 25 Member 24). Affiliated tissues include eye, heart and bone.

OMIM : 53 The cardinal features of Gorlin-Chaudhry-Moss syndrome (GCMS) include stocky body build, hypertrichosis, craniosynostosis, conductive hearing loss, normal intelligence, hyperopia, facial dysmorphism, dental anomalies, hypoplastic distal phalanges, umbilical hernia, and genital hypoplasia. The facial dysmorphism consists of brachycephaly, low anterior hairline, coarse hair, midface hypoplasia, short palpebral fissures, microphthalmia, high-arched narrow palate, and posteriorly angulated ears (Rosti et al., 2013). (233500)

Genetics Home Reference : 24 Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.

Related Diseases for Gorlin-Chaudhry-Moss Syndrome

Diseases related to Gorlin-Chaudhry-Moss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 giant cell myocarditis 10.9
2 dysostosis 10.4
3 hypertrichosis 10.4
4 necrotizing soft tissue infection 10.4
5 pituitary hormone deficiency, combined, 2 9.9
6 mevalonic aciduria 9.9
7 hypogonadotropic hypogonadism 9.9
8 hypoparathyroidism 9.9
9 hypogonadism 9.9
10 myoblastoma 9.9
11 hypogonadotropism 9.9

Graphical network of the top 20 diseases related to Gorlin-Chaudhry-Moss Syndrome:



Diseases related to Gorlin-Chaudhry-Moss Syndrome

Symptoms & Phenotypes for Gorlin-Chaudhry-Moss Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
ptosis
microphthalmia
downslanting palpebral fissures
hyperopia
more
Abdomen External Features:
umbilical hernia

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
low anterior hairline
midface hypoplasia
depressed supraorbital ridge
prominent columella (in some patients)

Head And Neck Ears:
posteriorly rotated ears
conductive hearing loss

Skeletal Hands:
hypoplastic distal phalanges
cutaneous syndactyly (rare)

Growth Other:
stocky body build

Skin Nails Hair Skin:
hypertrichosis (scalp, arms, legs, back)

Head And Neck Mouth:
narrow palate
high-arched palate
small median cleft (in some patients)

Skin Nails Hair Hair:
coarse hair
low anterior hairline
synophrys
hypertrichosis (scalp, arms, legs, back)
low posterior hairline (in some patients)

Head And Neck Head:
brachycephaly

Head And Neck Teeth:
microdontia
hypodontia
malocclusion
abnormally shaped teeth

Genitourinary External Genitalia Female:
hypoplastic labia majora

Skeletal Skull:
craniosynostosis (coronal)
clival hypoplasia
elevation of the lessor sphenoidal wings
hypoplastic maxillary bones
hypoplastic nasal bones

Skeletal Feet:
hypoplastic distal phalanges
cutaneous syndactyly (in some patients)

Head And Neck Nose:
bifid nasal tip (in some patients)

Skin Nails Hair Nails:
small nails (in some patients)
aplastic nails (rare)


Clinical features from OMIM:

233500

Human phenotypes related to Gorlin-Chaudhry-Moss Syndrome:

55 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
4 coarse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002208
5 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
7 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
8 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
9 patent ductus arteriosus 55 31 frequent (33%) Frequent (79-30%) HP:0001643
10 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
11 abnormality of the foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001760
12 coronal craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004440
13 abnormality of the metacarpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0001163
14 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
15 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
16 low anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0000294
17 sclerocornea 55 31 frequent (33%) Frequent (79-30%) HP:0000647
18 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
19 astigmatism 55 31 frequent (33%) Frequent (79-30%) HP:0000483
20 underdeveloped supraorbital ridges 55 31 hallmark (90%) Very frequent (99-80%) HP:0009891
21 upper eyelid coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000636
22 oligodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000677
23 congenital craniofacial dysostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008497
24 aplasia/hypoplasia of the nasal bone 55 31 frequent (33%) Frequent (79-30%) HP:0010940
25 malar flattening 31 HP:0000272
26 high palate 31 HP:0000218
27 ptosis 31 HP:0000508
28 narrow palate 31 HP:0000189
29 dental malocclusion 31 HP:0000689
30 abnormality of the dentition 55 Very frequent (99-80%)
31 abnormality of the eye 55 Very frequent (99-80%)
32 microdontia 31 HP:0000691
33 low posterior hairline 31 occasional (7.5%) HP:0002162
34 abnormality of the skull 55 Frequent (79-30%)
35 abnormality of the eyelid 55 Very frequent (99-80%)
36 microphthalmia 31 HP:0000568
37 small nail 31 occasional (7.5%) HP:0001792
38 downslanted palpebral fissures 31 HP:0000494
39 anonychia 31 occasional (7.5%) HP:0001798
40 hypodontia 31 HP:0000668
41 midface retrusion 31 HP:0011800
42 synophrys 31 occasional (7.5%) HP:0000664
43 hypoplastic labia majora 31 HP:0000059
44 posteriorly rotated ears 31 HP:0000358
45 short distal phalanx of toe 31 HP:0001857
46 hypermetropia 31 HP:0000540
47 bifid nasal tip 31 occasional (7.5%) HP:0000456
48 cutaneous syndactyly 31 occasional (7.5%) HP:0012725
49 low hanging columella 31 occasional (7.5%) HP:0009765
50 narrow palpebral fissure 31 HP:0045025

Drugs & Therapeutics for Gorlin-Chaudhry-Moss Syndrome

Search Clinical Trials , NIH Clinical Center for Gorlin-Chaudhry-Moss Syndrome

Genetic Tests for Gorlin-Chaudhry-Moss Syndrome

Anatomical Context for Gorlin-Chaudhry-Moss Syndrome

MalaCards organs/tissues related to Gorlin-Chaudhry-Moss Syndrome:

38
Eye, Heart, Bone, Skin

Publications for Gorlin-Chaudhry-Moss Syndrome

Articles related to Gorlin-Chaudhry-Moss Syndrome:

# Title Authors Year
1
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype. ( 23686885 )
2013
2
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. ( 21216154 )
2011
3
Two sisters resembling Gorlin-Chaudhry-Moss syndrome. ( 21910232 )
2011
4
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. ( 1442899 )
1992

Variations for Gorlin-Chaudhry-Moss Syndrome

Expression for Gorlin-Chaudhry-Moss Syndrome

Search GEO for disease gene expression data for Gorlin-Chaudhry-Moss Syndrome.

Pathways for Gorlin-Chaudhry-Moss Syndrome

GO Terms for Gorlin-Chaudhry-Moss Syndrome

Sources for Gorlin-Chaudhry-Moss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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