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Craniofacial Abnormalities

Categorical breakdown of terms falling inder the category of Craniofacial Abnormalities. Sub categories will become more specific in nature to the terms listed for Craniofacial Abnormalities.

Sub-Categories

Terms

Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...

Cleft Palate - Congenital fissure of the soft and/or hard palate, due to faulty fusion....

Cleidocranial Dysplasia - A rare autosomal dominant condition in which there is defective ossification of the cranial bones wi...

Costello Syndrome - Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial f...

Craniofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the cranium and facial b...

Craniofacial Dysostosis - An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus...

Craniosynostoses - Premature closure of one or more sutures of the skull....

Donohue Syndrome - Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding doma...

Goldenhar Syndrome - Mandibulofacial dysostosis with congenital eyelid dermoids....

Hallermann's Syndrome - An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), pa...

Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sph...

Jaw Abnormalities - Congenital absence of or defects in structures of the jaw....

LEOPARD Syndrome - An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abn...

Loeys-Dietz Syndrome - An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling...

Mandibulofacial Dysostosis - A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is charac...

Maxillofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or ...

Microcephaly - A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, a...

Micrognathism - Unusual or undue smallness of the jaws. (Dorland, 27th ed)...

Noonan Syndrome - A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations,...

Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...

Pierre Robin Syndrome - An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated wi...

Plagiocephaly, Nonsynostotic - A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as CRANIOSYNOSTOSES, and ...

Platybasia - A developmental deformity of the occipital bone and upper end of the cervical spine, in which the la...

Prognathism - A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)...

Retrognathism - Retrusion of the mandible. (Dorland, 27th ed)...

Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...

Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...