In the following list you will find some of the most common rare diseases related to Cleft palate and Abnormality of the skeletal system that can help you solving undiagnosed cases.
OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5
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OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6
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A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
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Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.
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Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
CLEFT VELUM Is also known as cleft soft palate|cleft velum palatinum
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SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about CLEFT VELUMIntellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).
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SOURCES: ORPHANET OMIM MENDELIAN
More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROMEOROFACIAL CLEFT 10; OFC10 Is also known as cleft lip with or without cleft palate, nonsyndromic, 10
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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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about BIFID UVULAVan der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
VAN DER WOUDE SYNDROME Is also known as cleft lip/palate with mucous cysts of lower lip|lip-pit syndrome|vws
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Symptoms // Phenotype | % cases |
---|---|
Cleft upper lip | Uncommon - Between 30% and 50% cases |
Sensorineural hearing impairment | Rare - less than 30% cases |
Cleft lip | Rare - less than 30% cases |
Bifid uvula | Rare - less than 30% cases |
Abnormality of the dentition | Rare - less than 30% cases |
Patients with Cleft palate and Abnormality of the skeletal system. may also develop some of the following symptoms:
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