Intellectual disability, severe, and Hypodontia

Diseases related with Intellectual disability, severe and Hypodontia

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

Top matches:

High match ANE SYNDROME

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

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

Other less relevant matches:

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

High match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTO-ONYCHO-DERMAL DYSPLASIA Is also known as oodd

Related symptoms:

  • Intellectual disability
  • Hyperhidrosis
  • Photophobia
  • Erythema
  • Sparse hair


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ODONTO-ONYCHO-DERMAL DYSPLASIA

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Optic atrophy Generalized hypotonia Global developmental delay Seizures Delayed skeletal maturation Strabismus Downslanted palpebral fissures Spasticity Hypertonia Hypoplasia of the corpus callosum Epicanthus Delayed eruption of teeth Wide nasal bridge Depressed nasal bridge Neurological speech impairment Hearing impairment Failure to thrive Nystagmus Micrognathia Cryptorchidism Oligodontia Sparse hair

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment High anterior hairline Growth delay Anodontia Hyperreflexia Abnormal facial shape Soft skin High palate Myopia Babinski sign Gait disturbance Highly arched eyebrow Proptosis Abnormality of dental morphology Short philtrum Kyphosis Atrial septal defect Intrauterine growth retardation Cleft palate Ataxia Scoliosis Progressive spasticity Abnormal form of the vertebral bodies Dysphagia Leukodystrophy Tetraplegia Widely spaced teeth Severe global developmental delay Retinopathy Aplasia/Hypoplasia of the cerebellum Polydactyly Brachycephaly Pes planus Abnormality of the skeletal system Dystonia Brachydactyly Intellectual disability, mild Sparse body hair Recurrent respiratory infections Ectodermal dysplasia Hypoplasia of the maxilla Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Dry skin Hypotrichosis Prominent nasal bridge Hyperhidrosis Prominent forehead Agenesis of permanent teeth Microdontia Thick eyebrow Wide nose Single transverse palmar crease Motor deterioration Abnormality of digit Fine hair Decreased body weight Kyphoscoliosis Hypogonadism Skeletal muscle atrophy Underdeveloped nasal alae High forehead Sparse scalp hair Severe short stature Selective tooth agenesis Clinodactyly of the 5th finger Cerebellar atrophy Short chin Prominent supraorbital ridges Sparse and thin eyebrow Hypohidrosis Cognitive impairment Limb dystonia Limb hypertonia Ventriculomegaly Psychosis Cerebellar vermis hypoplasia Thick lower lip vermilion Open mouth Macrocephaly Mitral regurgitation Abnormality of retinal pigmentation Peripheral neuropathy Wide anterior fontanel Abnormality of the hair Cutaneous finger syndactyly Short middle phalanx of finger Aplasia/Hypoplasia of the corpus callosum Sleep apnea Narrow nasal bridge Short metacarpal Coxa valga Aphasia Muscle weakness Narrow palate Cataract Dysphasia Cutis laxa Supernumerary nipple Dental malocclusion Dilated cardiomyopathy Tapered finger Narrow naris Enlarged epiphyses Frontal hirsutism 2-4 toe syndactyly Cerebral cortical atrophy Inguinal hernia Pectus excavatum Schizophrenia Mandibular prognathia Congestive heart failure Macrotia Cardiomyopathy Hydrocephalus Coarse facial features Aplastic/hypoplastic toenail Anteverted ears Joint hypermobility Echolalia Joint hyperflexibility Clinodactyly of the 5th toe Anteverted nares Narrow nose Pectus carinatum Low hanging columella Broad columella Congenital microcephaly Wide mouth Cutaneous syndactyly of toes Protruding ear Hyperlordosis Feeding difficulties in infancy Mental deterioration Telecanthus Advanced eruption of teeth Coarse hair Hypergranulosis Abnormality of primary teeth Smooth tongue Conical incisor Palmoplantar hyperhidrosis Orthokeratosis Plantar hyperkeratosis Persistence of primary teeth Dry hair Dystrophic fingernails Gait ataxia Dystrophic toenail Blepharitis Anonychia Epiphora Keratitis Reduced number of teeth Palmoplantar hyperkeratosis Neoplasm of the skin Dysarthria Dysmetria Nail dysplasia Impaired horizontal smooth pursuit 11 pairs of ribs Abnormal cortical gyration Proportionate short stature Clitoral hypertrophy Sloping forehead Convex nasal ridge Blepharophimosis Retrognathia Delayed eruption of primary teeth Falls Cerebral hypomyelination Dysdiadochokinesis CNS hypomyelination Hypogonadotrophic hypogonadism Horizontal nystagmus Frequent falls Intention tremor Abnormal cerebellum morphology Epidermal acanthosis Nail dystrophy Redundant skin Atonic seizures Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Thickened calvaria Abnormal aortic valve morphology Broad palm Broad hallux Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Self-injurious behavior Delayed closure of the anterior fontanelle Myelopathy Erythema Pseudoepiphyses of the metacarpals Photophobia Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Stooped posture Hyperextensibility of the finger joints Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Mutism Abnormality of the philtrum Cutaneous syndactyly Periorbital hyperpigmentation Abnormality of metabolism/homeostasis Blindness Respiratory insufficiency Hepatomegaly Low-set ears Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital wrinkles Respiratory failure Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Myoclonus Osteopenia Heat intolerance Generalized-onset seizure Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Spastic tetraplegia Bilateral sensorineural hearing impairment Pigmentary retinopathy EEG abnormality Peripheral demyelination Brain atrophy Retinal degeneration Abnormality of the cerebral white matter Irritability Developmental regression Neonatal hypotonia Elevated hepatic transaminase Conical tooth Taurodontia CNS demyelination Adrenal insufficiency Compensated hypothyroidism Ulnar deviation of the hand or of fingers of the hand Central adrenal insufficiency Ulnar deviation of the hand Adrenocorticotropic hormone deficiency Upper motor neuron dysfunction Reduced subcutaneous adipose tissue Melanocytic nevus Hypertension Gynecomastia Hyperpigmentation of the skin Delayed puberty Carious teeth Hypothyroidism Alopecia Flexion contracture Feeding difficulties Fever Absent eyelashes Sparse eyelashes Rhinitis Hypoplastic nipples Aplasia/Hypoplasia of the eyebrow Anhidrosis Absent eyebrow Brittle hair Dysphonia Type I diabetes mellitus Respiratory distress Hoarse voice Thin skin Depressed nasal ridge Eczema Respiratory tract infection Immunodeficiency Short nose Abnormality of the dentition Decreased light- and dark-adapted electroretinogram amplitude Tapetoretinal degeneration Finger clinodactyly Rib segmentation abnormalities Muscular hypotonia of the trunk Thin upper lip vermilion Clinodactyly Syndactyly Ventricular septal defect Visual impairment Hypoplastic pubic rami Abnormality of the gallbladder Postnatal growth retardation Abnormal lip morphology Tethered cord Aplasia cutis congenita of scalp Aplasia/Hypoplasia of the nipples Abdominal situs inversus Rib fusion Short hallux Intellectual disability, moderate Broad forehead Sclerocornea Specific learning disability Generalized hirsutism Bilateral single transverse palmar creases Long eyelashes Postnatal microcephaly Hypertrichosis Small nail Ambiguous genitalia Limitation of joint mobility Small for gestational age Hirsutism Bulbous nose Thin vermilion border Smooth philtrum Paraplegia Toe syndactyly Synophrys Finger syndactyly Calvarial skull defect Aplasia/Hypoplasia of the lungs Abnormality of nervous system morphology Low-set, posteriorly rotated ears Arachnodactyly Abnormality of movement Abnormality of the foot Dolichocephaly Microtia Abnormal cardiac septum morphology Abnormality of the kidney Osteoporosis Iris coloboma Agenesis of corpus callosum Hypospadias Hernia Abnormality of cardiovascular system morphology Talipes equinovarus Ptosis Diffuse hepatic steatosis No social interaction Cleft upper lip Downturned corners of mouth Abnormality of the mouth Abnormality of the thorax Megalocornea Abnormality of the vertebral column Abnormality of the immune system Abnormal heart valve morphology Disproportionate tall stature Preaxial hand polydactyly Chronic otitis media Abnormality of the urinary system Decreased fetal movement Hemangioma Sacral dimple Abnormal vertebral morphology Short thumb Abnormality of the genital system Split hand Low posterior hairline Congenital diaphragmatic hernia Large beaked nose


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