Cognitive impairment, and Spina bifida

Diseases related with Cognitive impairment and Spina bifida

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


Top matches:

Low match JOUBERT SYNDROME 17; JBTS17


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

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Other less relevant matches:

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match MUSCLE-EYE-BRAIN DISEASE


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

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Low match AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME


AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Top 5 symptoms//phenotypes associated to Cognitive impairment and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Meningocele Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Strabismus Muscular hypotonia Low-set ears Abnormality of cardiovascular system morphology Glaucoma Cerebellar hypoplasia Hearing impairment Scoliosis Hypertelorism Cataract Myopia Abnormality of the kidney Hypoplasia of the brainstem Webbed neck Micrognathia Nystagmus Nevus Mental deterioration Hydrocephalus Ventriculomegaly Encephalocele Congenital cataract Cryptorchidism Spina bifida occulta Polydactyly Ptosis Epicanthus Cleft palate

Rare Symptoms - Less than 30% cases


Aplasia/Hypoplasia of the cerebellum Motor delay Hypertrophic cardiomyopathy Muscle weakness Corneal dystrophy Right ventricular hypertrophy Depressed nasal bridge Joint hyperflexibility Microcephaly Short stature Abnormal facial shape Melanocytic nevus Chorioretinal coloboma Hemiparesis Dandy-Walker malformation Intrauterine growth retardation Pectus excavatum EEG abnormality Aplasia/Hypoplasia of the abdominal wall musculature Hypertension Spasticity Melanoma Failure to thrive Visual impairment Neonatal hypotonia Cortical dysplasia Abnormality of the voice Pachygyria High myopia Generalized muscle weakness Polymicrogyria Retinal degeneration Abnormality of movement Abnormal aortic valve morphology Mandibular prognathia Retinal dysplasia Telecanthus Midface retrusion Abnormality of the foot Tachypnea Occipital encephalocele Dilatation Growth delay Myopathy Hypoplasia of the corpus callosum Gait disturbance Coloboma Long face Pterygium Cleft lip Syndactyly Hemiplegia/hemiparesis Abnormality of the eye High palate Cleft upper lip Popliteal pterygium Sprengel anomaly Abnormality of the genital system Molar tooth sign on MRI Renal hypoplasia/aplasia Scrotal hypoplasia Low posterior hairline Facial asymmetry Abnormality of eye movement Apraxia Short neck Conductive hearing impairment Postaxial polydactyly Sensorineural hearing impairment Cerebellar vermis hypoplasia Oculomotor apraxia Chorioretinal atrophy Dextrocardia Pyloric stenosis Absent septum pellucidum Ectopia lentis Horizontal nystagmus Macular degeneration Aplasia cutis congenita Calvarial skull defect Acute lymphoblastic leukemia Phthisis bulbi Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Lymphangioma Vitreoretinopathy Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Narrow face Limited neck range of motion Abnormality of the hair Recurrent upper respiratory tract infections Skeletal myopathy Organic aciduria Cardiorespiratory arrest Mitochondrial myopathy Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Easy fatigability Abnormal myelination Eosinophilia Ragged-red muscle fibers Hyperventilation Exercise intolerance Cardiac arrest Pulmonary arterial hypertension Esotropia 3-Methylglutaconic aciduria Decreased activity of mitochondrial respiratory chain Thin skin Patent ductus arteriosus Progressive visual loss Retinal detachment Bulbous nose Leukemia Nyctalopia Retrognathia Alopecia Visual loss Fatty replacement of skeletal muscle Cerebral atrophy Cerebellar atrophy Blindness Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Vesicoureteral reflux Camptodactyly of finger Skeletal muscle atrophy Left ventricular hypertrophy External genital hypoplasia Bundle branch block Bilateral cryptorchidism Myelodysplasia Hyperextensible skin Scapular winging Cafe-au-lait spot Subcutaneous nodule Decreased fertility Abnormality of the face Myocardial infarction Mitral valve prolapse Tetralogy of Fallot Specific learning disability Triangular face Thick vermilion border Abnormality of the ear Atrioventricular canal defect Pulmonic stenosis Shield chest Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal mitral valve morphology Freckling Redundant neck skin Wolff-Parkinson-White syndrome Premature skin wrinkling Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Delayed puberty Pectus carinatum Downslanted palpebral fissures Oral cleft Vertebral segmentation defect Neonatal respiratory distress Aortic aneurysm Pointed chin Hypoplasia of penis Limitation of joint mobility Pulmonary hypoplasia Arthrogryposis multiplex congenita Aplasia/Hypoplasia of the skin Dolichocephaly Finger syndactyly Increased serum lactate Umbilical hernia Hypogonadism Inguinal hernia Long philtrum Abnormality of the sternum Hearing abnormality Low-set, posteriorly rotated ears Wide nasal bridge Hyperkeratosis Brachycephaly Posteriorly rotated ears Delayed skeletal maturation Arrhythmia Hypospadias Intellectual disability, mild Absence of labia majora Abnormal eyelid morphology Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Multiple pterygia Abnormality of the tongue Rib fusion Symphalangism affecting the phalanges of the hand Aciduria Thrombocytopenia Lactic acidosis Intercrural pterygium Lower lip pit Pallor Fibrous syngnathia Absent scrotum Myoclonus Agenesis of corpus callosum Elevated serum creatine phosphokinase Muscular dystrophy Pyramidal skinfold extending from the base to the top of the nails Microphthalmia Malar flattening Hypertonia Intellectual disability, severe Ventricular septal defect Optic atrophy Neurological speech impairment Severe global developmental delay Anal atresia Bilateral cleft lip Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Severe muscular hypotonia Opacification of the corneal stroma EMG abnormality Bilateral cleft lip and palate Abnormality of the cerebral white matter Intellectual disability, profound Hypoplastic labia majora Labial hypoplasia Everted lower lip vermilion Ankyloblepharon Hypoplasia of the vagina Abnormality of the scrotum Abnormality of the pinna Flat face Cutaneous finger syndactyly Abnormality of the nervous system Generalized hirsutism Abnormality of retinal pigmentation Thickened skin Abnormal cranial nerve morphology Ectopic anus Fused cervical vertebrae Short sternum Abnormality of the shoulder Venous thrombosis Behavioral abnormality Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Neoplasm Abnormal vertebral segmentation and fusion Cranial nerve paralysis Arnold-Chiari malformation Wide intermamillary distance Spinal cord compression Abnormality of the ribs Numerous congenital melanocytic nevi Choroid plexus papilloma Papilloma Astrocytoma Meningioma Arachnoid cyst Increased intracranial pressure Syringomyelia Generalized hyperpigmentation Abnormality of neuronal migration Vertebral fusion Abnormality of the vertebral column Intracranial hemorrhage Encephalitis Optic nerve hypoplasia Congenital muscular dystrophy Stroke Abnormal pattern of respiration Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Meningoencephalocele Abnormal saccadic eye movements Agenesis of cerebellar vermis Enlarged fossa interpeduncularis Breathing dysregulation Central apnea Optic nerve coloboma Impaired smooth pursuit Self-mutilation Protruding tongue Talipes equinovarus Neonatal breathing dysregulation Hemifacial spasm Hepatic fibrosis Congestive heart failure Feeding difficulties in infancy Myelomeningocele Osteopenia Acidosis Dyspnea Decreased cervical spine mobility Headache Cardiomyopathy Occipital myelomeningocele Respiratory distress Respiratory insufficiency Fatigue Intermittent hyperventilation Flexion contracture Abnormality of the skeletal system Triangular-shaped open mouth Dementia Heterotopia Hypoplasia of the uterus Cerebellar dysplasia Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Type II lissencephaly Decreased light- and dark-adapted electroretinogram amplitude Macrocephaly Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Megalocornea Retinal atrophy Congenital glaucoma Bifid scrotum Overgrowth Tremor Open mouth Abnormality of skin pigmentation Narrow forehead Postaxial hand polydactyly Macroglossia Renal cyst Highly arched eyebrow Downturned corners of mouth Retinal dystrophy Toe syndactyly Anteverted nares Prominent nasal bridge Apnea Aggressive behavior Bifid uvula Hyperactivity Prominent forehead Absent speech Numerous nevi



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