Cleft palate, and Abnormal heart morphology

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 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 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 HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Micrognathia

SOURCES: ORPHANET MENDELIAN

Low match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

• Hypertelorism
• Cleft palate
• Low-set ears
• Depressed nasal bridge
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Low match NEMALINE MYOPATHY 9; NEM9

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

• Scoliosis
• Micrognathia
• Muscle weakness
• Cleft palate
• Flexion contracture

SOURCES: OMIM MENDELIAN

Low match MECKEL SYNDROME, TYPE 4; MKS4

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

• Microcephaly
• Cleft palate
• Intrauterine growth retardation
• Ventricular septal defect
• Hypoplasia of the corpus callosum

SOURCES: OMIM MENDELIAN