MCID: GRL004
MIFTS: 26

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 54 50 56
Gorlin Chaudhry Moss Syndrome 50 69
Gcm Syndrome 50 56
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies 50
Dental and Eye Anomalies-Patent Ductus Arteriosus-Normal Intelligence Syndrome 56
Cranofacial Dysostosis-Hypertrichosis-Hypoplasia of Labia Majora Syndrome 56
Craniofacial Dysostosis-Genital, Dental, Cardiac Anomalies Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
gorlin-chaudhry-moss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
gorlin-chaudhry-moss syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gorlin-Chaudhry-Moss Syndrome

NIH Rare Diseases : 50 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 dysostosis and hypertrichosis, and has symptoms including short stature, nystagmus and umbilical hernia. Affiliated tissues include eye, heart and bone.

OMIM : 54
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)

Related Diseases for Gorlin-Chaudhry-Moss Syndrome

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

(showing 3, show less)
id Related Disease Score Top Affiliating Genes
1 dysostosis 10.3
2 hypertrichosis 10.3
3 necrotizing soft tissue infection 10.3

Symptoms & Phenotypes for Gorlin-Chaudhry-Moss Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- External Features:
umbilical hernia

Cardiovascular- Vascular:
patent ductus arteriosus

Head And Neck- Ears:
posteriorly rotated ears
conductive hearing loss

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

Head And Neck- Head:
brachycephaly

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

Growth- Other:
stocky body build

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

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

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
hypertelorism
microphthalmia
hyperopia
more
Head And Neck- Face:
midface hypoplasia
low anterior hairline
depressed supraorbital ridge
prominent columella (in some patients)

Genitourinary- External Genitalia Female:
hypoplastic labia majora

Head And Neck- Teeth:
malocclusion
hypodontia
microdontia
abnormally shaped teeth

Skeletal- Hands:
hypoplastic distal phalanges
cutaneous syndactyly (rare)

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

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:

56 32 (showing 49, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 patent ductus arteriosus 56 32 frequent (33%) Frequent (79-30%) HP:0001643
6 sclerocornea 56 32 frequent (33%) Frequent (79-30%) HP:0000647
7 low anterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0000294
8 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
9 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 astigmatism 56 32 frequent (33%) Frequent (79-30%) HP:0000483
11 coarse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002208
12 oligodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000677
13 coronal craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004440
14 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
15 upper eyelid coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000636
16 underdeveloped supraorbital ridges 56 32 hallmark (90%) Very frequent (99-80%) HP:0009891
17 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
18 abnormality of the foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001760
19 abnormality of the metacarpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0001163
20 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
21 conductive hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000405
22 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
23 congenital craniofacial dysostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008497
24 aplasia/hypoplasia of the nasal bone 56 32 frequent (33%) Frequent (79-30%) HP:0010940
25 ptosis 32 HP:0000508
26 microphthalmia 32 HP:0000568
27 posteriorly rotated ears 32 HP:0000358
28 narrow palate 32 HP:0000189
29 hypoplastic labia majora 32 HP:0000059
30 synophrys 32 occasional (7.5%) HP:0000664
31 hypodontia 32 HP:0000668
32 midface retrusion 32 HP:0011800
33 hypermetropia 32 HP:0000540
34 downslanted palpebral fissures 32 HP:0000494
35 low posterior hairline 32 occasional (7.5%) HP:0002162
36 high palate 32 HP:0000218
37 dental malocclusion 32 HP:0000689
38 microdontia 32 HP:0000691
39 malar flattening 32 HP:0000272
40 anonychia 32 occasional (7.5%) HP:0001798
41 bifid nasal tip 32 occasional (7.5%) HP:0000456
42 cutaneous syndactyly 32 occasional (7.5%) HP:0012725
43 abnormality of the teeth 56 Very frequent (99-80%)
44 abnormality of the eye 56 Very frequent (99-80%)
45 abnormality of the skull 56 Frequent (79-30%)
46 abnormality of the eyelid 56 Very frequent (99-80%)
47 small nail 32 occasional (7.5%) HP:0001792
48 short distal phalanx of toe 32 HP:0001857
49 narrow palpebral fissure 32 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:

39
Eye, Heart, Bone, Skin

Publications for Gorlin-Chaudhry-Moss Syndrome

Articles related to Gorlin-Chaudhry-Moss Syndrome:

(showing 4, show less)
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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