Intellectual disability, and Cleft palate

Diseases related with Intellectual disability and Cleft palate

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

Top matches:

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

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

Related symptoms:

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEFT PALATE, ISOLATED; CPI

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Other less relevant matches:

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, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Intellectual disability, mild
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10

Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS 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

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Intellectual disability and Cleft palate

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases

Other less frequent symptoms

Patients with Intellectual disability and Cleft palate. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Retinal detachment Cataract Long philtrum Oral cleft Cleft lip Micrognathia Bifid uvula Thin vermilion border Atrial septal defect Short stature Strabismus Feeding difficulties Cleft upper lip Arthralgia Ataxia Oligohydramnios Inability to walk Muscular dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Absent speech Hypertonia Intellectual disability, severe Muscle weakness Neural tube defect Hypoglycosylation of alpha-dystroglycan Bilateral cleft lip and palate Bilateral cleft lip Hypoplasia of the maxilla Posterior embryotoxon Abnormal vitreous humor morphology Chorioretinal coloboma Joint hyperflexibility Hematuria Iris coloboma Hypoplasia of the pons Scoliosis Skeletal dysplasia Aganglionic megacolon Proptosis Visual loss Short nose Myopia Lobulated tongue Postaxial foot polydactyly Median cleft lip Horseshoe kidney Osteoarthritis Postaxial hand polydactyly Hypertelorism Corneal opacity Postaxial polydactyly Polydactyly Agenesis of corpus callosum Mitral valve prolapse Abnormality of epiphysis morphology Abnormal heart morphology Platyspondyly Frontal bossing Ventricular septal defect Cupped ear Coloboma Cleft soft palate Submucous cleft hard palate Flat occiput Pes planus Syndactyly Anteverted nares Depressed nasal bridge Cognitive impairment Anterior open-bite malocclusion Overbite Facial cleft Intellectual disability, mild Non-midline cleft lip Gingival overgrowth Intellectual disability, profound Coarctation of aorta Hypermetropia Autistic behavior Patent ductus arteriosus Abnormality of the dentition Cryptorchidism Generalized hypotonia Abnormally large globe Hypogonadism Glaucoma Bifid epiglottis Microphthalmia Optic atrophy Visual impairment Ptosis Nystagmus Bulbous nose Arachnodactyly Narrow mouth Malar flattening Wide nasal bridge Thyroid agenesis Primary amenorrhea Bilateral choanal atresia Abnormal hair quantity Congenital hypothyroidism Curly hair Choanal atresia Retrognathia Polyhydramnios Hypothyroidism Anosmia Hypogonadotrophic hypogonadism Abnormality of vertebral epiphysis morphology


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