Hypomandibular faciocranial dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 43
OrphanetNr: 1790
OMIM Id: 241310
ICD-10: Q75.4
UMLs: C1855848
MeSH: C537154
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial malformation
 -Rare developmental defect during embryogenesis
Genetic cranial malformation
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0000220) Velopharyngeal insufficiency Very frequent [Orphanet] 10 / 7739
3
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
4
 (HPO:0000205) Pursed lips 6 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0009794) Branchial anomaly 5 / 7739
7
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
8
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
10
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
11
 (HPO:0000452) Choanal stenosis 23 / 7739
12
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
13
 (HPO:0000171) Microglossia Very frequent [Orphanet] 27 / 7739
14
 (HPO:0000272) Malar flattening 277 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
16
 (HPO:0000243) Trigonocephaly Occasional [Orphanet] 40 / 7739
17
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
18
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
21
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
22
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
23
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
24
 (HPO:0000588) Optic nerve coloboma Frequent [Orphanet] 27 / 7739
25
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
26
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
27
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
28
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
29
 (HPO:0002777) Tracheal stenosis Occasional [Orphanet] 35 / 7739
30
 (HPO:0008750) Laryngeal atresia Frequent [Orphanet] 3 / 7739
31
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
32
 (OMIM) Midfacial hypoplasia 3 / 7739
33
 (HPO:0012730) Aglossia 3 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (OMIM) Gingival fusion 1 / 7739
36
 (OMIM) Orbital hypoplasia 1 / 7739
37
 (MedDRA:10001501) Aglossia 2 / 7739
38
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
41
 (OMIM) Pharyngeal membrane 1 / 7739
42
 (OMIM) Zygomatic arch hypoplasia 2 / 7739
43
 (Orphanet:9200) Protruding lips 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Neidich et al. (1988) reported the case of a girl with unusual abnormalities mostly of first branchial arch derivatives. The mandible was nearly absent, and the maxillary and zygomatic arches were severely hypoplastic. Aglossia was suspected. Coronal craniosynostosis ...