In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Bifid uvula that can help you solving undiagnosed cases.
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about BIFID UVULA
Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about CATARACT 21, MULTIPLE TYPES; CTRCT21MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix
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Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).
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This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome
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Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v
Related symptoms:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about OROFACIODIGITAL SYNDROME TYPE 5Symptoms // Phenotype | % cases |
---|---|
Cleft palate | Common - Between 50% and 80% cases |
Polydactyly | Uncommon - Between 30% and 50% cases |
Short stature | Uncommon - Between 30% and 50% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Patients with Abnormality of the skeletal system and Bifid uvula. may also develop some of the following symptoms:
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