Hypomandibular faciocranial dysostosis

Hypomandibular 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.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(60.5%)		 12210581
 Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.
Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A.
Prenat Diagn. 2002;22(8):710-4.
Glossoptosis Micrognathia
Adult Craniofacial Dysostosis Fatal Outcome Females Gestational Age Homo sapiens Mandible Micrognathism Microstomia Pregnancy Ultrasonography, Prenatal
2
(26.3%)		 8135280
 Hypomandibular faciocranial dysostosis: another case and review.
Ludman MD, Vincer MJ, Cron C, Aguiar M, Cohen MM Jr.
Am J Med Genet. 1993;47(3):352-6.
Anteverted nares
Craniofacial Dysostosis Females Genes, Recessive Homo sapiens Infant, Newborn Mandible
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005439 Maxillozygomatic hypoplasia Very frequent (99-80%)
HP:0005607 Abnormal tracheobronchial morphology Very frequent (99-80%)
HP:0010295 Aplasia/Hypoplasia of the tongue Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000452 Choanal stenosis Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000588 Optic nerve coloboma Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0008749 Laryngeal hypoplasia Frequent (79-30%)
HP:0000008 Abnormality of female internal genitalia Occasional (29-5%)
HP:0000243 Trigonocephaly Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0001522 Death in infancy Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002777 Tracheal stenosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID