Intellectual disability, and Hypodontia

Diseases related with Intellectual disability and Hypodontia

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

Top matches:

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

Other less relevant 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

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Oligodontia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Nystagmus Hyperreflexia Dysphagia Hypoplasia of the corpus callosum Delayed eruption of teeth Hypogonadism Dysmetria Intention tremor Leukodystrophy Hypogonadotrophic hypogonadism CNS hypomyelination Microcephaly Delayed puberty Abnormality of the dentition Ataxia Motor deterioration Optic atrophy

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Gait ataxia Abnormal cerebellum morphology Nail dysplasia Sensorineural hearing impairment Hearing impairment Dysdiadochokinesis Peripheral neuropathy Micrognathia Delayed skeletal maturation Flexion contracture Sparse hair Cerebellar atrophy Upper motor neuron dysfunction Brachydactyly Abnormal facial shape Seizures Growth delay Postural tremor Drooling Microdontia Cerebral cortical atrophy Dystonia Intellectual disability, mild Severe short stature Selective tooth agenesis Generalized hypotonia Dysarthria Reduced number of teeth Ventriculomegaly Short neck Short metatarsal Foam cells Blue sclerae Bilateral sensorineural hearing impairment Macrocephaly Short metacarpal Kyphosis High myoinositol in brain by MRS Midface retrusion Skeletal dysplasia Joint laxity Hyperlordosis Macroglossia Highly arched eyebrow Limb undergrowth Scoliosis Impaired distal proprioception Focal seizures, afebril Abnormality of the hand Abnormality of digit Cerebellar hypoplasia Tarsal synostosis Deeply set eye Radioulnar synostosis Developmental regression Clumsiness Deep philtrum Hypometric saccades Impaired vibration sensation in the lower limbs Spastic dysarthria Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Lumbar hyperlordosis Synophrys Coxa valga Small nail High myopia Natal tooth Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Cervical spine instability Hitchhiker thumb Focal impaired awareness seizure Talon cusp Thoracolumbar kyphoscoliosis Peripheral demyelination Cognitive impairment Focal-onset seizure Cleft palate Progressive cerebellar ataxia Motor delay Abnormal pyramidal sign Mental deterioration Diastema Hypoplasia of the capital femoral epiphysis Elbow flexion contracture Short femoral neck Tremor Clinodactyly Coxa vara Relative macrocephaly Cubitus valgus Cone-shaped epiphysis Metaphyseal irregularity Metaphyseal dysplasia Delayed ossification of carpal bones Thoracolumbar scoliosis Ovoid vertebral bodies Broad ribs Hypoplastic ilia Carpal synostosis Spondyloepimetaphyseal dysplasia Syndactyly Shield chest Short hallux Epicanthus Thin eyebrow Falls Dry hair Persistence of primary teeth Plantar hyperkeratosis Orthokeratosis Palmoplantar hyperhidrosis Conical incisor Smooth tongue Abnormality of primary teeth Frequent falls Dystrophic fingernails Horizontal nystagmus Progressive spasticity Cerebral hypomyelination Delayed eruption of primary teeth Impaired horizontal smooth pursuit Strabismus Cryptorchidism High palate Downslanted palpebral fissures Hypergranulosis Dystrophic toenail Retrognathia Hypohidrosis Photophobia Erythema Nail dystrophy Hypotrichosis Dry skin Ectodermal dysplasia Epidermal acanthosis Fine hair Sparse scalp hair Sparse and thin eyebrow Anodontia Neoplasm of the skin Palmoplantar hyperkeratosis Abnormality of dental morphology Keratitis Epiphora Anonychia Agenesis of permanent teeth Sparse body hair Blepharitis Clinodactyly of the 5th finger Pes planus Delayed ability to walk Anxiety Feeding difficulties Delayed speech and language development Hyperhidrosis Long philtrum Immunodeficiency Recurrent infections Hyperactivity Narrow mouth Thin upper lip vermilion Attention deficit hyperactivity disorder Compensated hypothyroidism Hypermetropia Unsteady gait Asthma Prominent nose Hypsarrhythmia Short palpebral fissure Narrow palpebral fissure Eosinophilia Myopathic facies Hypertelorism Ulnar deviation of the hand or of fingers of the hand Blepharophimosis Intellectual disability, severe Prominent nasal bridge Convex nasal ridge Sloping forehead Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Large beaked nose Skeletal muscle atrophy Alopecia Central adrenal insufficiency Hypothyroidism Carious teeth Hyperpigmentation of the skin Gynecomastia Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Adrenocorticotropic hormone deficiency Ulnar deviation of the hand Abnormal upper motor neuron morphology


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