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Hypomandibular faciocranial dysostosis

MedGen UID:
343427
Concept ID:
C1855848
Congenital Abnormality
Synonym: HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
SNOMED CT: Hypomandibular faciocranial dysostosis (721845005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0009425
OMIM®: 241310
Orphanet: ORPHA1790

Definition

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). [from OMIM]

Clinical features

From HPO
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Congenital Abnormality
Premature closure of the coronal suture of skull.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Aglossia
MedGen UID:
57859
Concept ID:
C0158663
Congenital Abnormality
Absence of the tongue owing to a developmental abnormality.
Choanal stenosis
MedGen UID:
108427
Concept ID:
C0584837
Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Pursed lips
MedGen UID:
371254
Concept ID:
C1832130
Finding
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
Coloboma of optic nerve
MedGen UID:
57832
Concept ID:
C0155299
Disease or Syndrome
A cleft of the optic nerve that extends inferiorly.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomandibular faciocranial dysostosis
Follow this link to review classifications for Hypomandibular faciocranial dysostosis in Orphanet.

Recent clinical studies

Diagnosis

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G
Am J Med Genet A 2007 Jun 1;143A(11):1135-42. doi: 10.1002/ajmg.a.31752. PMID: 17497718
Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A
Prenat Diagn 2002 Aug;22(8):710-4. doi: 10.1002/pd.385. PMID: 12210581
Cohen MM Jr
Am J Med Genet Suppl 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990

Prognosis

Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A
Prenat Diagn 2002 Aug;22(8):710-4. doi: 10.1002/pd.385. PMID: 12210581

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