Intellectual disability, severe, and Tall stature

Diseases related with Intellectual disability, severe and Tall stature

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Other less relevant matches:

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

High match NARP SYNDROME

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Tall stature

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Scoliosis Hyperactivity Aggressive behavior Autistic behavior Absent speech Mandibular prognathia Ataxia Spasticity Muscular hypotonia Short stature Feeding difficulties Encephalopathy Autism Gait ataxia Overgrowth High palate Chorea Macrotia Abnormal facial shape Anxiety Cerebral cortical atrophy Optic atrophy Strabismus Delayed speech and language development Hyperreflexia Hypoplasia of the corpus callosum Blindness Hearing impairment Clumsiness Retinopathy Hypermetropia Constipation Attention deficit hyperactivity disorder Neonatal hypotonia Dystonia EEG abnormality Intellectual disability, moderate Joint hypermobility Vomiting Self-injurious behavior Status epilepticus Hyperkinesis Nystagmus Kyphosis Long face Slender build Behavioral abnormality Deeply set eye Sensorineural hearing impairment Narrow face Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Macroorchidism Bruxism Gait disturbance Motor delay Cognitive impairment Ptosis Pectus excavatum Profound global developmental delay Atonic seizures Atrial septal defect Postnatal microcephaly Infantile spasms Involuntary movements Spastic tetraplegia Tremor Generalized-onset seizure Babinski sign Hypertonia Visual loss Thick vermilion border Parkinsonism Wide mouth External ophthalmoplegia Exotropia Protruding ear Drooling Choreoathetosis Prominent forehead Ophthalmoplegia Midface retrusion Hypoplasia of the maxilla Micrognathia Irritability Feeding difficulties in infancy Tetraplegia Cataract Pes cavus Muscular hypotonia of the trunk Gastroesophageal reflux Muscle weakness Sleep disturbance Flat occiput Cerebellar atrophy Ventriculomegaly Facial hypotonia Visual impairment Hypertelorism Pain Progressive gait ataxia Brachycephaly Apraxia Astigmatism Sloping forehead Myopia Neurological speech impairment Retinal dystrophy Obesity Inguinal hernia Frontal bossing Failure to thrive Polyphagia Pigmentary retinopathy Abnormality of movement Abnormal pyramidal sign Myoclonus Tongue thrusting Sinusitis Blue irides Facial asymmetry Postural instability Round face Otitis media Mitral valve prolapse Heterotopia Hyperpigmentation of the skin Infertility Premature ovarian insufficiency Relative macrocephaly Fair hair Epileptic spasms Chronic otitis media Large hands Abnormality of neuronal migration Overweight Drowsiness Broad palm Poor eye contact Protruding tongue Large forehead Falls Hypopigmentation of the skin Joint laxity Dilatation Albinism Sleep-wake cycle disturbance Hyperextensibility of the finger joints Paroxysmal bursts of laughter Incoordination Cerebral palsy Inappropriate laughter Limb tremor Anisometropia Happy demeanor Widely spaced teeth Intellectual disability, progressive Moderate global developmental delay Large foramen magnum Depressivity Aspiration Keratoconus Abnormality of the face Short attention span High forehead Broad-based gait Intellectual disability, profound Coarse facial features Focal-onset seizure Pes planus Macroglossia Abnormal cerebellum morphology Enuresis Polydactyly Ascending tubular aorta aneurysm Bilateral ptosis Chorioretinal atrophy Cortical gyral simplification Agitation Anophthalmia Scaling skin Patent foramen ovale Deep philtrum Underdeveloped supraorbital ridges Optic nerve hypoplasia Venous thrombosis Pointed chin Muscle stiffness Skin ulcer Lymphedema Abnormality of retinal pigmentation Cellulitis Abnormal eyelash morphology Thickened skin Abnormal nasolacrimal system morphology Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Erysipelas Prominent nasal tip Gangrene Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Amblyopia Subcutaneous nodule Mood swings Increased size of the mandible Downslanted palpebral fissures Wide nasal bridge Epicanthus Depressed nasal bridge Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Macroorchidism, postpubertal Edema Finger joint hypermobility Encopresis Oppositional defiant disorder Periventricular gray matter heterotopia Abnormal head movements Shyness Irregular dentition Anteverted nares Long philtrum Thick lower lip vermilion Wide nose Bilateral sensorineural hearing impairment Specific learning disability Lymphoma Full cheeks Broad nasal tip Microcornea Retinal detachment Dry skin Microphthalmia Corneal opacity Leukemia Rigidity Thin upper lip vermilion Reduced visual acuity Glaucoma Upslanted palpebral fissure Severe short stature Paresthesia Fever Inappropriate crying Broad forehead Growth abnormality Abnormality of metabolism/homeostasis Malar flattening Nasal speech Abnormality of the sternum Oculogyric crisis Delayed myelination Disproportionate tall stature Global brain atrophy Abnormality of the musculature Focal impaired awareness seizure Spastic tetraparesis Progressive microcephaly Joint hyperflexibility Open mouth Tetraparesis Self-mutilation Duodenal ulcer Urethral stenosis Impaired social interactions Ileus Speech apraxia Chronic constipation Myopathic facies Aganglionic megacolon Athetosis Mask-like facies Language impairment Redundant skin Cachexia Stereotypy Cerebral visual impairment Long foot Poor hand-eye coordination Aplasia/Hypoplasia of the corpus callosum Abnormality of the clavicle Nephronophthisis Molar tooth sign on MRI Prominent occiput Aplasia/Hypoplasia of the cerebellum Triphalangeal thumb Oculomotor apraxia Cryptorchidism Wide anterior fontanel Congenital diaphragmatic hernia Ambiguous genitalia Postaxial hand polydactyly Dandy-Walker malformation Postaxial polydactyly Hypospadias Retrocerebellar cyst Hypsarrhythmia Abnormality of eye movement Hypotelorism Epileptic encephalopathy Febrile seizures Dyskinesia Inability to walk Thick eyebrow Abnormality of the eye Short upper lip Hyporeflexia Distal muscle weakness Short philtrum Cerebral atrophy Narrow palate Prominent supraorbital ridges Abnormality of creatine metabolism Underfolded superior helices Corticospinal tract atrophy Nyctalopia Generalized muscle weakness Muscle cramps Neurodegeneration Sensory neuropathy Lactic acidosis Micropenis Paralysis Poor suck Pallor Developmental regression Apnea Hypertrophic cardiomyopathy Proximal muscle weakness Acidosis Optic disc pallor Oral-pharyngeal dysphagia Dementia Myoclonic spasms Abnormal visual field test Abnormal mitochondria in muscle tissue Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Breathing dysregulation Constriction of peripheral visual field Asymmetric septal hypertrophy Heart block Progressive external ophthalmoplegia Mitochondrial myopathy Hyperventilation Sensory axonal neuropathy Dyspnea Rod-cone dystrophy Growth delay Paraplegia Spastic paraparesis Paraparesis Spastic gait Psychosis Abnormality of extrapyramidal motor function Small hand Genu valgum Restlessness Spastic paraplegia Arachnodactyly Pneumonia Abnormality of the dentition Short neck Flexion contracture Progressive spasticity Poor coordination Arrhythmia Peripheral neuropathy Headache Myopathy Cardiomyopathy Respiratory distress Dysphagia Dysarthria Pectus carinatum Shuffling gait Prominent nasal bridge Narrow chest Juvenile cataract Mania Progressive spastic paraparesis Excessive salivation Chorioretinal lacunae


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Meningitis, related diseases and genetic alterations