MCID: HYP212
MIFTS: 22

Hypomandibular Faciocranial Dysostosis

Categories: Fetal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Hypomandibular Faciocranial Dysostosis

MalaCards integrated aliases for Hypomandibular Faciocranial Dysostosis:

Name: Hypomandibular Faciocranial Dysostosis 57 53 59 72

Characteristics:

Orphanet epidemiological data:

59
hypomandibular faciocranial dysostosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypomandibular faciocranial dysostosis:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 241310
MESH via Orphanet 45 C537154
ICD10 via Orphanet 34 Q75.4
UMLS via Orphanet 73 C1855848
Orphanet 59 ORPHA1790
MedGen 42 C1855848
UMLS 72 C1855848

Summaries for Hypomandibular Faciocranial Dysostosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1790DefinitionHypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypomandibular Faciocranial Dysostosis is related to dysostosis and craniosynostosis. Affiliated tissues include eye, bone and tongue, and related phenotypes are low-set ears and recurrent respiratory infections

OMIM : 57 Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001). (241310)

Related Diseases for Hypomandibular Faciocranial Dysostosis

Diseases related to Hypomandibular Faciocranial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 10.8
2 craniosynostosis 10.7
3 cleft palate, isolated 10.5
4 synostosis 10.5

Symptoms & Phenotypes for Hypomandibular Faciocranial Dysostosis

Human phenotypes related to Hypomandibular Faciocranial Dysostosis:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
5 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
7 aplasia/hypoplasia of the tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0010295
8 maxillozygomatic hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005439
9 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
10 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
11 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
12 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
13 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
14 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
15 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
16 optic nerve coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000588
17 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
18 choanal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0000452
19 laryngeal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008749
20 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
21 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
22 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
23 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
24 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
25 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
26 malar flattening 32 HP:0000272
27 micrognathia 32 HP:0000347
28 death in infancy 59 Occasional (29-5%)
29 coronal craniosynostosis 32 HP:0004440
30 hypoplasia of the maxilla 32 HP:0000327
31 pursed lips 32 HP:0000205
32 abnormal tracheobronchial morphology 59 Very frequent (99-80%)
33 aglossia 32 HP:0012730

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
patent ductus arteriosus
atrial septal defect

H E E N T:
coronal craniosynostosis
pursed lips
optic nerve coloboma
choanal stenosis
aglossia
more

Clinical features from OMIM:

241310

Drugs & Therapeutics for Hypomandibular Faciocranial Dysostosis

Search Clinical Trials , NIH Clinical Center for Hypomandibular Faciocranial Dysostosis

Genetic Tests for Hypomandibular Faciocranial Dysostosis

Anatomical Context for Hypomandibular Faciocranial Dysostosis

MalaCards organs/tissues related to Hypomandibular Faciocranial Dysostosis:

41
Eye, Bone, Tongue, Heart

Publications for Hypomandibular Faciocranial Dysostosis

Articles related to Hypomandibular Faciocranial Dysostosis:

# Title Authors PMID Year
1
Hypomandibular faciocranial dysostosis: another case and review. 38 8
8135280 1993
2
Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up. 38 8
1951450 1991
3
Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities. 8
3144983 1988
4
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 38
17497718 2007
5
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. 38
12210581 2002
6
[Hypomandibular faciocranial dysostosis]. 38
11462721 2001
7
Craniosynostosis update 1987. 38
3144990 1988

Variations for Hypomandibular Faciocranial Dysostosis

Expression for Hypomandibular Faciocranial Dysostosis

Search GEO for disease gene expression data for Hypomandibular Faciocranial Dysostosis.

Pathways for Hypomandibular Faciocranial Dysostosis

GO Terms for Hypomandibular Faciocranial Dysostosis

Sources for Hypomandibular Faciocranial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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