Cleft palate, and Abnormal heart morphology

Diseases related with Cleft palate and Abnormal heart morphology

In the following list you will find some of the most common rare diseases related to Cleft palate and Abnormal heart morphology that can help you solving undiagnosed cases.


Top matches:

Low match OROFACIAL CLEFT 5; OFC5


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

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

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

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

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).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

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Other less relevant matches:

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.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

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}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

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

Related symptoms:

  • Cleft soft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CLEFT VELUM

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).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

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).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

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}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Top 5 symptoms//phenotypes associated to Cleft palate and Abnormal heart morphology

Symptoms // Phenotype % cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Ventricular septal defect Rare - less than 30% cases
Sensorineural hearing impairment Rare - less than 30% cases
Micrognathia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Cleft palate and Abnormal heart morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Polydactyly Abnormality of the dentition Hypoplasia of the corpus callosum Cleft upper lip Short stature Intellectual disability Global developmental delay Patellar hypoplasia Muscle weakness Flexion contracture High palate Scoliosis Motor delay Median cleft palate Respiratory insufficiency Myopathy Distal muscle weakness Arthrogryposis multiplex congenita Narrow chest Akinesia Hydrocephalus Fetal akinesia sequence Bowing of the long bones Bile duct proliferation Agenesis of cerebellar vermis Meningocele Anencephaly Occipital encephalocele Molar tooth sign on MRI Renal dysplasia Encephalocele Breech presentation Postaxial hand polydactyly Dandy-Walker malformation Renal cyst Postaxial polydactyly Microphthalmia Bilateral talipes equinovarus Intrauterine growth retardation Progressive distal muscle weakness Foot polydactyly Pes planus Preaxial polydactyly Thin vermilion border Retinal detachment Corneal opacity Retinopathy Myopia Cataract Coarctation of aorta Hypermetropia Hearing impairment Autistic behavior Patent ductus arteriosus Feeding difficulties Cryptorchidism Strabismus Generalized hypotonia Abnormal vitreous humor morphology Hypogonadism Pterygium Low-set ears Cardiomegaly Hip dysplasia Talipes Talipes equinovarus Downslanted palpebral fissures Depressed nasal bridge Hypertelorism Anosmia Cupped ear Bulbous nose Arachnodactyly Narrow mouth Malar flattening Wide nasal bridge Cleft soft palate Meningoencephalocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Choanal atresia, related diseases and genetic alterations Dysarthria and Spina bifida, related diseases and genetic alterations Low-set ears and Severe short stature, related diseases and genetic alterations Ptosis and Arthralgia, related diseases and genetic alterations

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