Intellectual disability, severe, and Hirsutism

Diseases related with Intellectual disability, severe and Hirsutism

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

Top matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Other less relevant matches:

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

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

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

High match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Low anterior hairline

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ataxia Coarse facial features Kyphosis Delayed speech and language development Hypoplasia of the corpus callosum Synophrys Muscular hypotonia Generalized hypotonia Generalized hirsutism Visual impairment High palate Cryptorchidism Hyperactivity Micrognathia Hearing impairment Ptosis Lissencephaly Short nose Abnormal facial shape Protruding ear Small hand Short foot Cerebellar hypoplasia Cerebral cortical atrophy Brachycephaly Agenesis of corpus callosum Absent speech Nystagmus Flexion contracture Growth delay Scoliosis

Rare Symptoms - Less than 30% cases

Malar flattening Motor delay Optic atrophy Spasticity Prominent nose Intellectual disability, profound Gastroesophageal reflux Cutaneous photosensitivity Tetraplegia Spastic tetraplegia Vomiting Abnormality of the hip bone Infantile muscular hypotonia Microphthalmia Macrotia Sleep disturbance Joint stiffness Splenomegaly Behavioral abnormality Diarrhea Hepatomegaly Deeply set eye Abnormality of retinal pigmentation Depressed nasal bridge Low posterior hairline Bulbous nose Muscular hypotonia of the trunk Prominent forehead Congenital cataract Ventriculomegaly Hypoplasia of penis Epicanthus Cataract Gait ataxia Everted lower lip vermilion Low-set, posteriorly rotated ears Short palm Abnormal cerebellum morphology Cognitive impairment Anteverted nares Thick lower lip vermilion Cerebellar vermis hypoplasia Thick eyebrow Intellectual disability, progressive Low-set ears Cortical dysplasia Micropenis Hypertelorism Aplasia/Hypoplasia of the corpus callosum Highly arched eyebrow Cerebellar atrophy Hypertonia Sensorineural hearing impairment Failure to thrive Macrodontia Hemifacial hypoplasia Short attention span Paroxysmal bursts of laughter Abnormality of lower lip Polyphagia Osteoporosis Hyperreflexia Neurodegeneration Cerebral calcification Peripheral demyelination Neuronal loss in central nervous system Wide intermamillary distance Delayed myelination Gliosis Thin vermilion border Long philtrum Arthrogryposis multiplex congenita Muscular dystrophy Prominent nasal bridge Blepharophimosis Camptodactyly Kyphoscoliosis Cupped ear Pain Self-injurious behavior Esotropia Thin upper lip vermilion EEG abnormality Aggressive behavior Feeding difficulties in infancy Postnatal growth retardation Autistic behavior Wide mouth Microtia Broad forehead Hypermetropia Facial asymmetry Astigmatism Downturned corners of mouth Focal-onset seizure Language impairment Febrile seizures Hip dysplasia Epileptic encephalopathy Open mouth Dental crowding Stereotypy Finger clinodactyly Short chin Absence seizures Sandal gap Widely spaced teeth Tented upper lip vermilion Focal impaired awareness seizure Sloping forehead Coxa valga Insulin resistance Osteomyelitis Dehydration Hepatitis Depressed nasal ridge Inflammatory abnormality of the skin Thin skin Abnormal lung morphology Lymphedema Skin ulcer Bilateral single transverse palmar creases Recurrent pneumonia Abnormality of the fingernails Reduced bone mineral density Systemic lupus erythematosus Psoriasiform dermatitis Increased antibody level in blood Asthma Petechiae Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Convex nasal ridge Palmoplantar keratoderma Joint contracture of the hand Recurrent infections Elbow flexion contracture Autism Knee flexion contracture Congenital muscular dystrophy Rocker bottom foot Abnormality of the ear Osteopetrosis Miosis Long ear Deep longitudinal plantar crease Second metatarsal posteriorly placed Anemia Downslanted palpebral fissures Intellectual disability, mild Abnormality of metabolism/homeostasis Dry skin Erythema Arachnodactyly Genu valgum Carious teeth Pruritus Papule Skin rash Elevated hepatic transaminase Thrombocytopenia Hepatosplenomegaly High forehead Proptosis Hyperkeratosis Recurrent respiratory infections Obesity Retrognathia Feeding difficulties Constipation Wide nose Hyporeflexia Abnormality of the skeletal system Short neck Hydrocephalus Cerebral atrophy Tremor Dysarthria Skeletal dysplasia Joint laxity Abnormality of the pinna Platyspondyly Confusion Flat face Thick vermilion border Broad alveolar ridges Abnormality of the skin Upper eyelid edema Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Hyperconvex nail Limb joint contracture Metaphyseal striations Inguinal hernia Talipes equinovarus Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Hip dislocation Abnormality of the neck Bruxism Thoracic kyphosis Thoracic scoliosis Global brain atrophy Dysdiadochokinesis Truncal ataxia Heterotopia Hypospadias Intention tremor Abnormal hair pattern Neonatal hypotonia Severe global developmental delay Brain atrophy Tapered finger Inability to walk Abnormality of the genital system Renal dysplasia Dysmetria Renal hypoplasia/aplasia Prominent supraorbital ridges Overlapping toe Abnormal pyramidal sign Infantile spasms Abnormally large globe Long fibula Posterior scalloping of vertebral bodies Clinodactyly of the 5th finger Cerebellar vermis atrophy Short philtrum Poor speech Delayed puberty Polymicrogyria Microcornea Decreased testicular size Sparse hair Pachygyria Postnatal microcephaly Cerebral visual impairment Scrotal hypoplasia Spastic diplegia Decreased muscle mass Abnormality of visual evoked potentials Narrow mouth Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Upper limb spasticity Clitoral hypoplasia Hypoplastic labia minora Frontoparietal polymicrogyria Myopia Fever Frontal bossing Posteriorly rotated ears Encephalopathy Clinodactyly Hydronephrosis Glaucoma Small basal ganglia Coarse hair Nonprogressive cerebellar ataxia Congenital microcephaly Limb hypertonia Palpebral edema Pneumonia Dementia Partial agenesis of the corpus callosum Corneal opacity Progressive neurologic deterioration Split hand Limb ataxia Recurrent upper respiratory tract infections Growth abnormality Thickened calvaria Hypogonadism Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Ovoid thoracolumbar vertebrae Dense calvaria Long eyelashes Peripheral neuropathy Wide nasal bridge Intrauterine growth retardation Narrow forehead Recurrent cystitis


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