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61 Possible Causes for Males Rarely Affected, Relative Prognathism

  • Early Infantile Epileptic Encephalopathy Type 2

    , but rare male cases have been reported; See also EIEE1 ( 308350 ); Some phenotypic overlap with Rett syndrome ( 312750 ) MOLECULAR BASIS: Caused by mutation in the cyclin-dependent[] Females are severely affected with midline and skeletal defects, whereas, male carriers typically show mild manifestations although severely affected males also occur.[] She was also autistic but had relatively better motor skills than the other girls.[]

  • Pyknodysostosis

    Males are predominantly affected, while the onset of the disease is often observed in children and young adults.[] Lateral cephalogram showed hypoplastic paranasal sinuses with relative mandibular prognathism ( Fig. 3B ).[] ) Normal intelligence Females with FMD present with characteristic craniofacial features similar to those of affected males [ Gorlin & Winter 1980 ].[]

  • Autosomal Dominant Prognathism

    Males and females are equally affected.[] […] mandibular prognathism.[] Other clinical features include hypertelorism, exophthalmos, strabismus, beaked nose, short upper lip, hypoplastic maxilla, and relative mandibular prognathism.[]

  • Smith-Magenis Syndrome

    Males and females are equally affected.[] Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism.[] Facial dysmorphisms include broad and square-shaped face, mild face hypoplasia, brachicephaly, short nasal philtrum, a tendency toward an everted upper lip, and relative prognathism[]

  • Cleidocranial Dysplasia

    CCD occurs in 1 in 1 million children worldwide Cleidocranial Dysplasia is a Rare Disorder That Affects Males and Females Equally People with CCD Often Have Recurrent Chest[] prognathic mandible (Pseudoprognathism),in addition to an unusual hypermobility of the shoulders ( Figure 1 ).[] Cleidocranial dysplasia (CCD) is a rare congenital defect of autosomal dominant inheritance, primarily affecting bones that undergo intra-membranous ossification.[]

  • Hypomandibular Faciocranial Dysostosis

    Males are more severely affected than more » Hypomandibular faciocranial dysostosis A very rare syndrome characterized mainly by very underdeveloped upper[] […] mandibular prognathism.[] Definition: An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative[]

  • X-Linked Mandibulofacial Dysostosis

    […] though in rare cases may affect females.[] […] mandibular prognathism.[] […] mandibular prognathism, shallow orbit Jackson-Weiss syndrome 123150 AD craniosynostosis, midfacial hypoplasia Apert syndrome 101200 AD craniosynostosis, brachysphenocephalic[]

  • Papilledema

    Affects the second eye within two months. Typically affects males in their 20s (rarely, females aged 10-60 years).[] […] mandibular prognathism, without extremity involvement.[] […] is an autosomal dominant disorder characterized by cranial synostosis, hypertelorism, orbital proptosis, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative[]

  • Rieger Syndrome

    Affected Populations Rieger syndrome is a rare disorder that affects males and females in about equal numbers.[] Other features can be hypoplasia of the malar bones, broad flat nasal root, prominent supraorbital ridges, relative prognathism, and mild telecanthus with or without hypertelorism[] Hypospadias is common in affected males.12·14 Empty sella turcica,15 enlarged sella turcica,16 growth hormone deficiencies,8·17 and related abnormalities are less common.[]

  • Baller-Gerold Syndrome

    Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse.[] Head and neck: Craniosynostosis, steep forehead, oxycephaly, micrognathia, relative mandibular prognathism, and midline capillary hemangioma.[] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[]

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