Intellectual disability, severe, and Spina bifida

Diseases related with Intellectual disability, severe and Spina bifida

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

Top matches:

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Other less relevant matches:

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Cataract Malar flattening Hydrocephalus Strabismus Growth delay High palate Cleft palate Depressed nasal bridge Microcephaly Micrognathia Short stature Sensorineural hearing impairment Hearing impairment Dilatation Atrial septal defect Hepatosplenomegaly Severe global developmental delay Congenital cataract Cerebellar vermis hypoplasia Hernia Meningocele Abnormality of the kidney Posteriorly rotated ears Coloboma Hypertelorism Nystagmus Ptosis Epicanthus Agenesis of corpus callosum Glaucoma Absent speech Conductive hearing impairment Microphthalmia Highly arched eyebrow Pachygyria Spina bifida occulta Holoprosencephaly Midface retrusion Aplasia/Hypoplasia of the corpus callosum Abnormality of the skeletal system Hypoplasia of the brainstem Wide nasal bridge Low-set ears Ataxia Anemia Hepatomegaly Anteverted nares Cleft lip Abnormal heart morphology Broad forehead Cognitive impairment Ventricular septal defect Prominent nasal bridge Molar tooth sign on MRI Encephalocele Umbilical hernia Polydactyly

Rare Symptoms - Less than 30% cases

Horseshoe kidney Seborrheic dermatitis Abnormality of the dentition Bulbous nose Hirsutism Apnea Frontal bossing Retrognathia Delayed eruption of teeth Wide mouth Gingival overgrowth Long face Occipital meningocele Pericardial effusion Aplasia of the uterus Foot polydactyly Hypothyroidism Multicystic kidney dysplasia Abnormality of neuronal migration Hand polydactyly Polycystic kidney dysplasia Tachypnea Intellectual disability, progressive Hemangioma Decreased antibody level in blood Biparietal narrowing Pulmonic stenosis Upslanted palpebral fissure Splenomegaly Synophrys Hyperactivity Macrocephaly Thrombocytopenia Finger syndactyly Trigonocephaly Congestive heart failure Tetralogy of Fallot Renal dysplasia Renal agenesis Oral cleft Patent ductus arteriosus Macrotia Inguinal hernia Edema Syndactyly Fever Brachydactyly Cryptorchidism Delayed CNS myelination Talipes equinovarus Polysplenia Polyhydramnios Short distal phalanx of finger Flat face Vesicoureteral reflux Hypocalcemia Respiratory insufficiency Low-set, posteriorly rotated ears Short philtrum Myopia Gait disturbance Megalocornea Undetectable electroretinogram Intellectual disability, profound Open mouth Hypoplasia of the corpus callosum Dandy-Walker malformation Spasticity Postaxial polydactyly Polymicrogyria Cerebellar hypoplasia Renal cyst Visual impairment Dyspnea Abnormality of cardiovascular system morphology Hypertension Downslanted palpebral fissures Pneumonia Behavioral abnormality Obesity Erysipelas Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Dementia Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Intestinal lymphangiectasia Bifid uvula Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Arthritis Rectal prolapse Renal malrotation Periorbital edema Anxiety Thyroid lymphangiectasia Depressivity Abnormality of the pinna Dysmetria Blepharophimosis Recurrent infections Immunodeficiency Autoimmunity Cerebellar atrophy Short neck Anal atresia Aplasia/Hypoplasia of the ulna Pericardial lymphangiectasia Abnormality of the shoulder Hemolytic anemia Delayed speech and language development Meckel diverticulum Hypospadias Pleural lymphangiectasia Aggressive behavior Bilateral radial aplasia Mental deterioration Aplasia/hypoplasia of the humerus Protein-losing enteropathy Lymphadenopathy Bilateral single transverse palmar creases Joint contracture of the hand Lymphopenia Hydrops fetalis Lymphedema Edema of the dorsum of feet Ascites Short foot Small hand Short palm Smooth philtrum Abnormal intestine morphology Lactose intolerance Tetraphocomelia Abnormality of the foot Shoulder muscle hypoplasia Malabsorption Narrow chest Axial malrotation of the kidney Microtia Camptodactyly of finger Craniosynostosis Narrow palate Cutaneous syndactyly Intermittent thrombocytopenia Edema of the lower limbs Generalized edema Edema of the dorsum of hands Hypoproteinemia Sparse axillary hair Underdeveloped nasal alae Nonimmune hydrops fetalis Nevus flammeus of the forehead Arteriovenous malformation Amegakaryocytic thrombocytopenia Hypoplastic iliac wing Coronal craniosynostosis Oligodontia External ear malformation Palpebral edema Increased number of teeth Cutaneous finger syndactyly Ectopic kidney Tibial torsion Abnormality of dental morphology Pleural effusion Hypoalbuminemia Pyloric stenosis Reduced number of teeth Chorea Generalized tonic-clonic seizures with focal onset Specific learning disability Juvenile rheumatoid arthritis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Blue sclerae Broad thumb Left ventricular hypertrophy Short phalanx of finger Paranoia Coxa valga Pulmonary artery atresia Abnormality of the endocrine system Adducted thumb Eosinophilia Genu varum Camptodactyly Hypoplasia of the radius Intracranial hemorrhage Echolalia Focal impaired awareness seizure Duodenal stenosis Ventricular hypertrophy Truncus arteriosus Arteria lusoria Clinodactyly of the 5th finger Brachycephaly Motor delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Abnormal cardiac septum morphology Retinal vascular tortuosity Leukemia Hip dislocation Sepsis Intestinal malrotation Aplasia of the thymus Psychotic episodes Conotruncal defect Focal-onset seizure Velopharyngeal insufficiency Coarctation of aorta Giant platelets Myelomeningocele Absent radius Cervical ribs Bicuspid aortic valve Cholelithiasis Aplastic anemia Allergy Patellar aplasia Nasal speech Abnormality of the hand Fused cervical vertebrae Cavum septum pellucidum Schizophrenia Pancreatic cysts Arnold-Chiari malformation Purpura Rheumatoid arthritis Narrow palpebral fissure Fibular aplasia Carpal bone hypoplasia Hallucinations Primary amenorrhea Phocomelia Low posterior hairline Lateral clavicle hook Psychosis Peripheral demyelination Amenorrhea Dysdiadochokinesis Psoriasiform dermatitis Pierre-Robin sequence Autoimmune thrombocytopenia Delusions Nevus flammeus Carpal synostosis Hearing abnormality Hypoparathyroidism Patellar dislocation Vitiligo Cardiorespiratory arrest Bipolar affective disorder Posterior embryotoxon Anal stenosis Submucous cleft hard palate Apathy Axonal loss Chromosome breakage Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Duodenal atresia Unilateral renal agenesis Obsessive-compulsive behavior Respiratory tract infection Small posterior fossa Intellectual disability, moderate Polydipsia Congenital hepatic fibrosis Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Tubular atrophy Postaxial foot polydactyly Severe vision loss Congenital blindness Nephronophthisis Polyuria Chorioretinal coloboma Hepatic fibrosis Tubulointerstitial fibrosis Aganglionic megacolon Heterotopia Postaxial hand polydactyly Nephropathy Hepatic steatosis Retinal dystrophy Iris coloboma Stage 5 chronic kidney disease Abnormality of the liver Autistic behavior Renal insufficiency Dilated fourth ventricle Aplasia/Hypoplasia of the cerebellar vermis Enlarged flash visual evoked potentials Pulmonary hypoplasia Sparse body hair Flared metaphysis Congenital contracture Epiphyseal dysplasia Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Congenital diaphragmatic hernia Limb undergrowth Limitation of joint mobility Ichthyosis Renal corticomedullary cysts Dry skin Kyphoscoliosis Cerebral cortical atrophy Severe short stature Alopecia Abnormality of metabolism/homeostasis Flexion contracture Pain Renal sodium wasting Brainstem dysplasia Multiple small medullary renal cysts Blindness Short nasal bridge Severe failure to thrive Ventriculomegaly Abnormality of the cerebral white matter Muscular dystrophy Neurological speech impairment Pallor Neonatal hypotonia EEG abnormality Myoclonus Elevated serum creatine phosphokinase Hypertonia Myopathy Optic atrophy Retinal degeneration Muscle weakness Morning glory anomaly Breathing dysregulation Multiple renal cysts Occipital encephalocele Tented upper lip vermilion Abnormality of eye movement Irritability Abnormality of the eye Deeply set eye High forehead Abnormality of movement Everted lower lip vermilion Hypoplasia of the retina Congenital glaucoma Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Hypoplasia of the pons Retinal dysplasia Retinal atrophy Cortical dysplasia Generalized muscle weakness Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Congenital muscular dystrophy Abnormality of the voice Optic nerve hypoplasia Infantile muscular hypotonia Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma EMG abnormality High myopia Epiphyseal stippling Concave nasal ridge Hydronephrosis Overgrowth Growth abnormality Accelerated skeletal maturation Hemivertebrae Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Thick lower lip vermilion Small nail Bilateral sensorineural hearing impairment Macroglossia Large for gestational age Thick vermilion border Thick eyebrow Joint hypermobility Protruding ear Coarse facial features Mandibular prognathia Cardiomyopathy Exencephaly Proboscis Cyclopia Single median maxillary incisor Metaphyseal widening Anonychia Facial cleft Aortic arch aneurysm Narrow mouth Recurrent respiratory infections Delayed skeletal maturation Pectus excavatum Intellectual disability, mild Diarrhea Respiratory distress Mesiodens Short distal phalanx of toe Prominent eyelashes Everted upper lip vermilion Aortic root aneurysm Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Scaphocephaly Abnormality of digit Multiple epiphyseal dysplasia Abnormal cerebellum morphology Preaxial hand polydactyly Bilateral cryptorchidism Radial deviation of finger Preaxial polydactyly Renal hypoplasia/aplasia Oculomotor apraxia Finger clinodactyly Apraxia Esotropia Broad nasal tip Cleft upper lip Tibial bowing Toe syndactyly Feeding difficulties in infancy Abnormality of the nervous system Micropenis Clinodactyly Tremor Failure to thrive Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Abnormal retinal morphology Partial agenesis of the corpus callosum Absent thumb Mesoaxial hand polydactyly Deep philtrum Exotropia Hypotelorism Narrow forehead Microcornea Astigmatism Hypermetropia Short nose Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Hypoplasia of olfactory tract Hamartoma Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Short femur Cow milk allergy


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