MCID: FNT005
MIFTS: 37

Fontaine Progeroid Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Fontaine Progeroid Syndrome

MalaCards integrated aliases for Fontaine Progeroid Syndrome:

Name: Fontaine Progeroid Syndrome 57 75 29 6
Gorlin-Chaudhry-Moss Syndrome 57 53 25 59
Gorlin Chaudhry Moss Syndrome 53 25 73
Gcm Syndrome 53 25 59
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence 57 25
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies 53 25
Progeroid Syndrome, Congenital, Petty Type 57 75
Gcms 57 25
Fps 57 75
Dental and Eye Anomalies-Patent Ductus Arteriosus-Normal Intelligence Syndrome 59
Cranofacial Dysostosis-Hypertrichosis-Hypoplasia of Labia Majora Syndrome 59
Craniofacial Dysostosis-Genital, Dental, Cardiac Anomalies Syndrome 59
Gorlin-Chaudhry-Moss Syndrome; Gcms 57
Petty Laxova Wiedemann Syndrome 73
Petty-Laxova-Wiedemann Syndrome 59
Progeroid Syndrome, Petty Type 59
Aging, Premature 44
Petty Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
gorlin-chaudhry-moss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present
early lethality in some patients


HPO:

32
fontaine progeroid syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fontaine Progeroid Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Fontaine Progeroid Syndrome, also known as gorlin-chaudhry-moss syndrome, is related to progeroid syndrome petty type and platelet disorder, familial, with associated myeloid malignancy. An important gene associated with Fontaine Progeroid Syndrome is SLC25A24 (Solute Carrier Family 25 Member 24). Affiliated tissues include eye, skin and heart, and related phenotypes are hypertelorism and nystagmus

OMIM : 57 Fontaine progeroid syndrome is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely open anterior fontanel, convex and broad nasal ridge, micrognathia, craniosynostosis in some patients, and early death in many (summary by Writzl et al., 2017). (612289)

UniProtKB/Swiss-Prot : 75 Fontaine progeroid syndrome: An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients.

Genetics Home Reference : 25 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 Fontaine Progeroid Syndrome

Graphical network of the top 20 diseases related to Fontaine Progeroid Syndrome:



Diseases related to Fontaine Progeroid Syndrome

Symptoms & Phenotypes for Fontaine Progeroid Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures
hyperopia
short palpebral fissures
more
Neurologic Central Nervous System:
hydrocephalus
hypotonia
hypoplastic cerebellar vermis
thin corpus callosum
hypoplastic cerebellum
more
Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia
recurrent aspiration pneumonia
reduced number of alveoli
pneumothorax due to bronchopleural fistula

Abdomen External Features:
umbilical hernia
abdominal muscle hypoplasia

Abdomen Gastrointestinal:
gastroesophageal reflux
anteriorly placed anus
feeding problems
partial malrotation

Head And Neck Face:
long philtrum
micrognathia
retrognathia
broad forehead
low anterior hairline
more
Head And Neck Teeth:
microdontia
oligodontia

Head And Neck Neck:
low posterior hairline
hypertrichosis

Skin Nails Hair Skin:
redundant skin
dermal translucency
deep palmar creases
reduced subcutaneous fat
wrinkled skin

Skeletal Skull:
craniosynostosis
premature fusion of coronal sutures
premature fusion of parietotemporal sutures (uncommon)
widely open metopic suture (uncommon)
widely open sagittal sutures (uncommon)
more
Genitourinary External Genitalia Male:
scrotal hypoplasia
micropenis

Skeletal Hands:
syndactyly
absent distal phalanges
short distal phalanges

Skeletal:
delayed bone age
low bone density
deficient endochondral ossification

Skin Nails Hair Nails:
small nails
absent nails (in some patients)

Cardiovascular Vascular:
pulmonary artery hypertension
aortic ectasia

Skeletal Pelvis:
hypoplastic or absent pubic bones

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears
hypoplastic or absent ear lobes
conductive hearing loss (in some patients)

Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Spine:
scoliosis
platyspondyly
notching of multiple vertebral bodies, superior and inferior

Growth Height:
short stature

Head And Neck Head:
brachycephaly
turricephaly
large anterior fontanel
microcephaly (in some patients)

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
bicuspid aortic valve
left ventricular hypertrophy
tricuspid insufficiency

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Mouth:
protruding tongue
small mouth
thin upper lip
protruding lower lip
high-arched palate (in some patients)

Head And Neck Nose:
convex nasal ridge
small nose
depressed nasal root

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary External Genitalia Female:
hypoplastic labia majora

Skeletal Feet:
syndactyly
absent distal phalanges
short distal phalanges

Chest Breasts:
absent nipples
small nipples
widely space nipples

Muscle Soft Tissue:
muscle weakness (in some patients)

Skin Nails Hair Hair:
coarse scalp hair
sparse scalp hair (parietal area may be particularly affected)
abnormal scalp hair pattern
low anterior and posterior hairlines
hypertrichosis (including face, neck, trunk, and limbs)

Prenatal Manifestations Movement:
reduction of fetal movements (uncommon)


Clinical features from OMIM:

612289

Human phenotypes related to Fontaine Progeroid Syndrome:

59 32 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 failure to thrive 59 32 very rare (1%) Very frequent (99-80%) HP:0001508
4 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
5 umbilical hernia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001537
6 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
7 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
8 short stature 59 32 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
9 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
10 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
11 brachycephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000248
12 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
13 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
14 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
15 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
16 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
17 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002230
18 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
19 intrauterine growth retardation 59 32 very rare (1%) Very frequent (99-80%) HP:0001511
20 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
21 abnormality of the foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001760
22 broad forehead 59 32 very rare (1%) Very frequent (99-80%) HP:0000337
23 coronal craniosynostosis 59 32 very rare (1%) Very frequent (99-80%) HP:0004440
24 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
25 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
26 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
27 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
28 conductive hearing impairment 59 32 very rare (1%) Very frequent (99-80%) HP:0000405
29 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
30 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
31 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
32 wide anterior fontanel 59 32 very rare (1%) Very frequent (99-80%) HP:0000260
33 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
34 short distal phalanx of finger 59 32 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0009882
35 long eyelashes in irregular rows 59 32 hallmark (90%) Very frequent (99-80%) HP:0007740
36 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
37 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
38 underdeveloped supraorbital ridges 59 32 very rare (1%) Very frequent (99-80%) HP:0009891
39 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
40 upper eyelid coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000636
41 shagreen patch 59 32 hallmark (90%) Very frequent (99-80%) HP:0009721
42 oligodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000677
43 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
44 congenital craniofacial dysostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008497
45 aplasia/hypoplasia of the nasal bone 59 32 frequent (33%) Frequent (79-30%) HP:0010940
46 low-set ears 32 very rare (1%) HP:0000369
47 abnormality of the dentition 59 Very frequent (99-80%)
48 microcephaly 32 very rare (1%) HP:0000252
49 hypoplasia of the abdominal wall musculature 32 HP:0005247
50 abnormality of the eye 59 Very frequent (99-80%)

Drugs & Therapeutics for Fontaine Progeroid Syndrome

Search Clinical Trials , NIH Clinical Center for Fontaine Progeroid Syndrome

Cochrane evidence based reviews: aging, premature

Genetic Tests for Fontaine Progeroid Syndrome

Genetic tests related to Fontaine Progeroid Syndrome:

# Genetic test Affiliating Genes
1 Fontaine Progeroid Syndrome 29 SLC25A24

Anatomical Context for Fontaine Progeroid Syndrome

MalaCards organs/tissues related to Fontaine Progeroid Syndrome:

41
Eye, Skin, Heart, Bone, Tongue, Cerebellum

Publications for Fontaine Progeroid Syndrome

Articles related to Fontaine Progeroid 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 Fontaine Progeroid Syndrome

ClinVar genetic disease variations for Fontaine Progeroid Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A24 NM_013386.4(SLC25A24): c.649C> T (p.Arg217Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 108700104: 108700104
2 SLC25A24 NM_013386.4(SLC25A24): c.649C> T (p.Arg217Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 108157482: 108157482
3 SLC25A24 NM_013386.4(SLC25A24): c.650G> A (p.Arg217His) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 108157481: 108157481
4 SLC25A24 NM_013386.4(SLC25A24): c.650G> A (p.Arg217His) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 108700103: 108700103

Expression for Fontaine Progeroid Syndrome

Search GEO for disease gene expression data for Fontaine Progeroid Syndrome.

Pathways for Fontaine Progeroid Syndrome

GO Terms for Fontaine Progeroid Syndrome

Sources for Fontaine Progeroid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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