Intellectual disability, severe, and Brachycephaly

Diseases related with Intellectual disability, severe and Brachycephaly

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

Top matches:

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

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

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Other less relevant matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Short stature Wide nasal bridge Hypertelorism Abnormal facial shape Neonatal hypotonia Spastic tetraplegia Strabismus Short neck Prominent nasal bridge Thin upper lip vermilion Prominent forehead Synophrys Optic atrophy Low-set ears Downturned corners of mouth Absent speech Low anterior hairline Macrotia Epicanthus Autistic behavior Ventriculomegaly Postnatal microcephaly Tetraplegia Abnormality of the pinna

Rare Symptoms - Less than 30% cases

Generalized-onset seizure Motor delay Polymicrogyria Inability to walk Obesity Developmental regression Flexion contracture Abnormality of the cerebral white matter Growth delay Tapered finger Downslanted palpebral fissures Cerebellar hypoplasia Round face Cryptorchidism Talipes equinovarus Hearing impairment Failure to thrive Horizontal eyebrow Severe global developmental delay Gait disturbance Overlapping toe Nystagmus Short philtrum Myoclonus Dysphagia Hyporeflexia Plagiocephaly Autism Frontal bossing Blindness Wide mouth Behavioral abnormality Aggressive behavior Abnormality of the skin Deeply set eye Abnormality of metabolism/homeostasis Long philtrum Intrauterine growth retardation Wide nose Abnormal heart morphology Thick vermilion border Feeding difficulties High palate Protruding ear Bulbous nose Flat face Retrognathia Hirsutism Spondyloepimetaphyseal dysplasia Low posterior hairline Narrow iliac wings Small epiphyses Flat acetabular roof Irregular vertebral endplates Irregular epiphyses Carpal bone hypoplasia Short femoral neck Flared metaphysis Thick lower lip vermilion Spondyloepiphyseal dysplasia Metaphyseal irregularity Long fibula Metaphyseal striations Infantile muscular hypotonia Posterior scalloping of vertebral bodies Small basal ganglia Scoliosis Hypertonia Abnormal cardiac septum morphology Leukodystrophy Irritability Retinopathy Neurological speech impairment Retinal degeneration Hypodontia Brain atrophy Peripheral demyelination Pigmentary retinopathy Bilateral sensorineural hearing impairment Intellectual disability, progressive EEG abnormality Abnormal electroretinogram Hand polydactyly Inverted nipples Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Elevated hepatic transaminase Osteopenia Broad forehead Sensorineural hearing impairment Arachnodactyly Long face Highly arched eyebrow Broad thumb Long eyelashes Sacral dimple Flat occiput Long nose Long palpebral fissure Spasticity Respiratory failure Depressed nasal bridge Hyperreflexia Hepatomegaly Myopia Respiratory insufficiency Platyspondyly Dystonia Babinski sign Polydactyly Confusion Pachygyria Joint laxity Slender finger Smooth philtrum Cleft upper lip Febrile seizures Hypotelorism Progressive microcephaly Severe muscular hypotonia Truncal obesity Overweight Hyperactivity Mild microcephaly Bruxism Unilateral cleft lip Abnormality of the cerebellar vermis Clinodactyly of the 5th finger Cerebral cortical atrophy Generalized myoclonic seizures Cleft lip Delayed speech and language development Congenital hypothyroidism Prominent supraorbital ridges Hypermetropia Poor speech Abnormality of the head Muscle weakness Macrocephaly Distal muscle weakness Narrow palate Facial hypotonia Fused labia minora Slender build Short upper lip Retrocerebellar cyst Anteverted nares Atrial septal defect Intellectual disability, profound Clitoral hypertrophy Congenital blindness Narrow forehead Underdeveloped supraorbital ridges Coarse facial features Global brain atrophy Micropenis Muscular hypotonia of the trunk Postnatal growth retardation Congenital cataract Microcornea Scrotal hypoplasia Spastic diplegia Hypoplastic labia majora Short nose Asymmetry of the ears Undetectable visual evoked potentials Ataxia Cognitive impairment Abnormality of the skeletal system Hydrocephalus Cerebral atrophy Skeletal dysplasia Microphthalmia Cataract Malignant hyperthermia Peripheral axonal neuropathy Congenital stationary night blindness Abnormality of brain morphology Large fleshy ears Multifocal cerebral white matter abnormalities Peripheral neuropathy Kyphoscoliosis Abnormality of the foot Small hand Broad palm Everted lower lip vermilion Focal-onset seizure Waddling gait Heterotopia Short toe Hypoplasia of the brainstem Toe walking Cortical dysplasia Diffuse hepatic steatosis


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