MCID: HYP212
MIFTS: 20

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 58 54 60 74

Characteristics:

Orphanet epidemiological data:

60
hypomandibular faciocranial dysostosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypomandibular faciocranial dysostosis:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypomandibular Faciocranial Dysostosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1790Disease definitionHypomandibular 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. Affiliated tissues include eye and tongue, and related phenotypes are low-set ears and recurrent respiratory infections

OMIM : 58 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

Symptoms & Phenotypes for Hypomandibular Faciocranial Dysostosis

Human phenotypes related to Hypomandibular Faciocranial Dysostosis:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
3 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
5 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
6 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
7 aplasia/hypoplasia of the tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0010295
8 maxillozygomatic hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005439
9 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
10 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
11 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
12 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
13 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
14 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
15 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
16 optic nerve coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000588
17 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
18 choanal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0000452
19 laryngeal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008749
20 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
21 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
22 trigonocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000243
23 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
24 tracheal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002777
25 abnormality of female internal genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000008
26 malar flattening 33 HP:0000272
27 micrognathia 33 HP:0000347
28 death in infancy 60 Occasional (29-5%)
29 coronal craniosynostosis 33 HP:0004440
30 hypoplasia of the maxilla 33 HP:0000327
31 pursed lips 33 HP:0000205
32 abnormality of the tracheobronchial system 60 Very frequent (99-80%)
33 aglossia 33 HP:0012730

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
patent ductus arteriosus
atrial septal defect

H E E N T:
coronal craniosynostosis
pursed lips
optic nerve coloboma
choanal stenosis
maxillary hypoplasia
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:

42
Eye, Tongue

Publications for Hypomandibular Faciocranial Dysostosis

Articles related to Hypomandibular Faciocranial Dysostosis:

# Title Authors Year
1
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. ( 12210581 )
2002
2
Hypomandibular faciocranial dysostosis: another case and review. ( 8135280 )
1993
3
Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up. ( 1951450 )
1991

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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