Motor delay, and Hypodontia

Diseases related with Motor delay and Hypodontia

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

Top matches:

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

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

Other less relevant matches:

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 21; BBS21

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

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

Top 5 symptoms//phenotypes associated to Motor delay and Hypodontia

Symptoms // Phenotype % cases
Myopia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Hypodontia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Oligodontia Abnormality of the dentition Seizures Dysphagia Delayed puberty Hypertelorism Spasticity Feeding difficulties Epicanthus Recurrent infections Hypoplasia of the corpus callosum Microdontia Hyperreflexia Growth delay Downslanted palpebral fissures Wide nasal bridge Micrognathia

Rare Symptoms - Less than 30% cases

Optic atrophy Dysarthria Peripheral neuropathy Cognitive impairment Nystagmus Short phalanx of finger Ventriculomegaly Hearing impairment Dystonia CNS hypomyelination Thick vermilion border Broad forehead Abnormal facial shape Muscular hypotonia Depressed nasal bridge Edema High palate Severe short stature Postural tremor Drooling Babinski sign Hypogonadotrophic hypogonadism Leukodystrophy Intention tremor High myopia Delayed eruption of teeth Dysmetria Gait ataxia Hepatosplenomegaly Hypogonadism Cerebral cortical atrophy Ataxia Dental crowding Thin upper lip vermilion Prominent nose Failure to thrive Generalized hypotonia Microcephaly Long philtrum Immunodeficiency Synophrys Sensorineural hearing impairment Hyperactivity Attention deficit hyperactivity disorder Frontal bossing Strabismus Pointed chin Conical tooth Avascular necrosis of the capital femoral epiphysis Type II diabetes mellitus Pigmentary retinopathy Overgrowth Delayed closure of the anterior fontanelle Cyanosis Epidermal acanthosis Insulin resistance Increased body weight Generalized edema Premature ovarian insufficiency Echolalia Esophagitis Acanthosis nigricans Reduced tendon reflexes Cachexia Decreased antibody level in blood Nephroblastoma High pitched voice Pulmonary fibrosis Slender long bone Pericarditis Insulin-resistant diabetes mellitus Scaphocephaly Growth hormone deficiency Diabetes mellitus Nevus Frontal open bite Congestive heart failure Abnormality of the nervous system Intellectual disability, moderate Retinopathy Small for gestational age Cardiomyopathy Macrocephaly Intrauterine growth retardation Hepatomegaly Dolichocephaly Neoplasm Abnormality of primary molar morphology Recurrent mandibular subluxations Infertility Femoral hernia Astigmatism Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Gingival hyperkeratosis Cirrhosis Ascites Triangular face Abdominal distention Enlarged naris Depressivity Soft, doughy skin Premature rupture of membranes Excessive wrinkled skin Blepharochalasis Hypoplasia of the fovea Microglossia Aplasia of the sweat glands Fine hair Sparse scalp hair Chronic diarrhea Bronchiectasis Hypohidrosis Anhidrosis Leukocytosis Agammaglobulinemia Heat intolerance Concave nasal ridge Lymphocytosis Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Periorbital wrinkles Defective production of NFKB1-dependent cytokines Dry skin Abnormality of the basal ganglia Focal seizures, afebril Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Vertical supranuclear gaze palsy Positive Romberg sign Upper motor neuron dysfunction Intellectual disability, mild Spastic dysarthria Impaired vibration sensation in the lower limbs Clumsiness Developmental regression Deeply set eye Cerebellar hypoplasia Ectodermal dysplasia Sparse hair Myocardial fibrosis Retinal degeneration Prominent superficial veins Weak voice Fibroma Peripheral edema Absent frontal sinuses J-shaped sella turcica Hypoplastic frontal sinuses Constrictive pericarditis Pericardial constriction Blindness Obesity Rod-cone dystrophy Polydactyly Elevated hepatic transaminase Postaxial polydactyly Respiratory tract infection Retinal thinning Arthritis Recurrent respiratory infections Pneumonia Diarrhea Hyperautofluorescent macular lesion Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Soft skin Retinal dystrophy Retinal atrophy Chorioretinal atrophy Constriction of peripheral visual field Cone/cone-rod dystrophy Horseshoe kidney Postaxial hand polydactyly Hiatus hernia Bruising susceptibility Gingival bleeding Hypometric saccades Cerebellar atrophy Mental deterioration Abnormal pyramidal sign Abnormal cerebellum morphology Progressive cerebellar ataxia Focal-onset seizure Peripheral demyelination Reduced number of teeth Dysdiadochokinesis Focal impaired awareness seizure Natal tooth Motor deterioration Foam cells Abnormal upper motor neuron morphology Thin eyebrow Brachydactyly Abnormality of the skeletal system Behavioral abnormality Kyphosis Short nose Pectus excavatum Clinodactyly Upslanted palpebral fissure Macrotia High forehead Pes planus Aggressive behavior Abnormal cardiac septum morphology Poor speech Tremor Delayed ability to walk Thick eyebrow Abnormal cranial nerve morphology Abnormality of the pinna Microtia Long face Underdeveloped nasal alae Tall stature Widely spaced teeth Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment High hypermetropia Increased number of teeth Arachnoid cyst Skin tags Anteverted ears Myopathic facies Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Aplasia of the inner ear Absent stapes Narrow mouth Anxiety Hypermetropia Unsteady gait Asthma Hypsarrhythmia Short palpebral fissure Narrow palpebral fissure Eosinophilia Facial asymmetry Short distal phalanx of finger Palpebral edema Coxa vara Sepsis Premature birth Hip dysplasia Limb undergrowth Blue sclerae Hypertrichosis Thin skin Large fontanelles Gingival overgrowth Wide anterior fontanel Short toe Coxa valga Joint dislocation Cutis laxa Hirsutism Mutism Hyperextensible skin Redundant skin Intracranial hemorrhage Rickets Epiphora Open bite Dysphasia Aphasia Delayed cranial suture closure Prolonged bleeding time Fragile skin Abnormal joint morphology Osteomalacia Everted lower lip vermilion Short palm Tapered finger Vomiting Syncope Low anterior hairline Abnormality of the hand Obsessive-compulsive behavior 2-3 toe syndactyly Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Aplasia of the 1st metacarpal Scoliosis Hernia Joint hypermobility Inguinal hernia Osteoporosis Hyperkeratosis Gastroesophageal reflux Osteopenia Retrognathia Umbilical hernia Joint laxity Joint stiffness Wide mouth Scarring Hip dislocation Joint hyperflexibility Micromelia High myoinositol in brain by MRS


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