Cleft palate, and Abnormality of the skeletal system

Low match OROFACIAL CLEFT 5; OFC5

OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

• Cleft palate
• Cleft upper lip

SOURCES: OMIM MESH MENDELIAN

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

• Cleft palate
• Cleft upper lip

SOURCES: OMIM MENDELIAN

Low match STICKLER SYNDROME TYPE 2

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.

• Sensorineural hearing impairment
• Cleft palate
• Cataract
• Myopia
• Retinopathy

SOURCES: ORPHANET MENDELIAN

Low match HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

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}.

• Hearing impairment
• Sensorineural hearing impairment
• Cleft palate
• Abnormality of the dentition
• Hypogonadism

SOURCES: OMIM MENDELIAN

Low match CLEFT VELUM

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

• Cleft soft palate

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Intellectual 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).

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET OMIM MENDELIAN

Low match OROFACIAL CLEFT 10; OFC10

OROFACIAL CLEFT 10; OFC10 Is also known as cleft lip with or without cleft palate, nonsyndromic, 10

• Cleft lip
• Unilateral cleft lip
• Unilateral cleft palate

SOURCES: OMIM MESH MENDELIAN

Low match CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX

• Cleft palate
• Bifid uvula
• Ankyloglossia
• Absent uvula

SOURCES: OMIM MENDELIAN

Low match BIFID UVULA

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

• Cleft lip
• Bifid uvula
• Submucous cleft soft palate
• Nasal, dysarthic speech

SOURCES: OMIM ORPHANET MENDELIAN

Low match VAN DER WOUDE SYNDROME

Van 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

• Cleft palate
• Cleft upper lip
• Hypodontia
• Abnormal salivary gland morphology
• Lip pit

SOURCES: ORPHANET MENDELIAN