Intellectual disability, and Spina bifida

Diseases related with Intellectual disability and Spina bifida

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Other less relevant matches:

Low match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

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

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

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Spina bifida occulta Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Ataxia Epicanthus Microcephaly Sensorineural hearing impairment Ptosis Ventriculomegaly Coloboma Dandy-Walker malformation Hearing impairment Intellectual disability, mild Downslanted palpebral fissures Scoliosis Meningocele Seizures Neoplasm Myelomeningocele

Rare Symptoms - Less than 30% cases

Hernia Muscular hypotonia Inguinal hernia Talipes Overgrowth Hypertension Spasticity Cognitive impairment Nephroblastoma Craniosynostosis Highly arched eyebrow EEG abnormality Low-set ears Midface retrusion Agenesis of corpus callosum High forehead Cerebellar vermis hypoplasia Deeply set eye Molar tooth sign on MRI Aplasia/Hypoplasia of the cerebellum Malar flattening Abnormal facial shape Postaxial polydactyly Short stature Abnormality of eye movement Encephalocele Intellectual disability, severe Abnormality of the eye Polydactyly Renal cyst Nystagmus Microphthalmia Intestinal malrotation Mitral valve prolapse Round face Renal dysplasia Tented upper lip vermilion Tall stature Large hands Neutropenia Bowing of the legs Large for gestational age Enlarged kidney Long foot Varicose veins Macroglossia Pes planus Thick vermilion border Morning glory anomaly Open mouth Occipital encephalocele Prominent nasal bridge Long hallux Short philtrum Irritability Multiple renal cysts Breathing dysregulation Macrocephaly Astigmatism Posteriorly rotated ears Pneumonia Absent speech Abnormality of the skeletal system Ventricular septal defect Talipes equinovarus Abnormal heart morphology Macrotia Protruding ear Retinal coloboma Myoclonus Renal malrotation Congenital glaucoma Opacification of the corneal stroma Severe muscular hypotonia Holoprosencephaly Lissencephaly Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Congenital muscular dystrophy Hypoplasia of the brainstem Hemiplegia/hemiparesis Cortical dysplasia Retinal atrophy Pachygyria Megalocornea Retinal dysplasia Hypoplasia of the pons Undetectable electroretinogram Buphthalmos Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge EMG abnormality Intellectual disability, profound Bifid ureter Cerebellar hypoplasia Micrognathia Muscle weakness Cataract Visual impairment Myopia Optic atrophy Gait disturbance Hypoplasia of the corpus callosum Myopathy Hypertonia Dilatation Elevated serum creatine phosphokinase Numerous congenital melanocytic nevi High myopia Glaucoma Neonatal hypotonia Pallor Neurological speech impairment Muscular dystrophy Severe global developmental delay Abnormality of the cerebral white matter Congenital cataract Abnormality of movement Retinal degeneration Polymicrogyria Everted lower lip vermilion Generalized muscle weakness Growth delay Thickened skin Choroid plexus papilloma Abnormal anterior chamber morphology Hyperlordosis Postnatal growth retardation Abnormality of the pinna Blepharophimosis Hip dislocation Oral cleft Downturned corners of mouth Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal nasal morphology Umbilical hernia Epicanthus inversus Caudal appendage Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Cleft palate Atrial septal defect Bifid uvula Renal hypoplasia Aortic valve stenosis Hypoplastic left heart Telecanthus Anterior plagiocephaly Lipoma Intellectual disability, moderate Syndactyly Apraxia Oculomotor apraxia Hyperventilation Intermittent hyperventilation High palate Wide nasal bridge Long philtrum Severe short stature Hypothyroidism Coarse facial features Synophrys Turricephaly Delayed puberty Growth hormone deficiency Aspiration Adrenal insufficiency Hypopituitarism Panhypopituitarism Cerebellar atrophy Brachycephaly Low anterior hairline Plagiocephaly Delayed cranial suture closure Tracheomalacia Mitral stenosis Papilloma Melanoma Behavioral abnormality Abnormality of the nervous system Mental deterioration Nevus Hemiparesis Abnormality of retinal pigmentation Generalized hirsutism Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Increased intracranial pressure Hemifacial hypertrophy Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Spinal cord compression Meningioma Astrocytoma Hemiareflexia Leiomyosarcoma Tethered cord Bicuspid aortic valve Butterfly vertebrae Spinal dysraphism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Laryngeal web Cryptorchidism Abnormality of the dentition Abnormality of cardiovascular system morphology Carcinoma Facial asymmetry Skeletal muscle hypertrophy Embryonal neoplasm Neurofibromas Multiple lipomas Impaired pain sensation Increased circulating cortisol level Communicating hydrocephalus Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetric growth Asymmetry of the thorax Hepatoblastoma Enlarged flash visual evoked potentials


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