Generalized hypotonia, and Delayed eruption of teeth

Diseases related with Generalized hypotonia and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Delayed eruption of teeth that can help you solving undiagnosed cases.

Top matches:

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

SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Other less relevant matches:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi|vitamin d-dependency type i|vddr-i|vitamin d-dependent rickets, type 1a|vitamin d dependency, type 1|pddr1a|1-alpha, 25-hydroxyvitamin d3 deficiency, selective|25-hydroxycholecalciferol-1-hydroxylase deficiency|pddr ia|1-alpha-hydroxylase deficiency|

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Delayed eruption of teeth

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Seizures Brachydactyly Cataract Anteverted nares Depressed nasal bridge Scoliosis Sensorineural hearing impairment Failure to thrive High palate

Rare Symptoms - Less than 30% cases

Coarse facial features Low-set ears Epicanthus Talipes equinovarus Cerebellar atrophy Cognitive impairment Visual impairment Recurrent fractures Abnormality of the dentition Telecanthus Midface retrusion Camptodactyly Frontal bossing Downslanted palpebral fissures Macrocephaly Severe sensorineural hearing impairment Muscular hypotonia Spasticity Micrognathia Growth delay Talipes Dental crowding Hypoplasia of dental enamel Abnormal facial shape Intrauterine growth retardation Myopia Short neck Cerebellar hypoplasia Sparse hair Thick vermilion border Macroglossia Hypertrichosis Delayed speech and language development Clinodactyly Feeding difficulties Motor delay Cerebral hypomyelination CNS hypomyelination Hypertonia Gait ataxia Inability to walk Babinski sign Irritability Fine hair Strabismus Deformed rib cage Wide nasal base Broad philtrum Broad face Relative macrocephaly Elevated circulating parathyroid hormone level Cleft palate Protuberant abdomen Delayed epiphyseal ossification Short palpebral fissure Anemia Malar flattening Osteomalacia Patent ductus arteriosus Abnormality of the scalp Hyperparathyroidism Underdeveloped antitragus Clinodactyly of the 5th finger Narrow mouth Tibial bowing Femoral bowing Pes planus Hypophosphatemia Thin bony cortex Abnormality of the cerebral white matter Apraxia Absent speech Bulging of the costochondral junction Subperiosteal bone resorption Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Long philtrum Enlargement of the costochondral junction Abdominal wall muscle weakness Enlargement of the wrists Fibular bowing Cerebral atrophy Conductive hearing impairment Neuronal loss in central nervous system Hyporeflexia Prominent forehead Cerebral cortical atrophy Kyphoscoliosis Widely patent fontanelles and sutures Hepatosplenomegaly Autistic behavior Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Secondary hyperparathyroidism Hypophosphatemic rickets Thin upper lip vermilion Breast aplasia Hydronephrosis Abnormality of the nail Abnormality of the thorax Abnormality of the urinary system Cutaneous syndactyly Abnormality of the fingernails Narrow palpebral fissure Type I diabetes mellitus Abnormality of the hair 2-3 toe syndactyly Hypohidrosis Recurrent urinary tract infections Renal hypoplasia Bilateral camptodactyly Hypotelorism Renal agenesis Abnormality of the skin Cupped ear Agenesis of permanent teeth Vesicoureteral reflux Abnormality of the endocrine system Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Eyelid coloboma Multiple lipomas Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Aplasia cutis congenita Hypoplastic helices Narrow nasal bridge Nail dysplasia Iris coloboma Broad forehead Finger clinodactyly Patent foramen ovale Hypercalciuria Nephrocalcinosis Underdeveloped tragus Flat occiput 3-4 finger cutaneous syndactyly Renal dysplasia Large forehead Esotropia Bilateral renal hypoplasia Bifid uvula Flat face Joint hypermobility Thin vermilion border Synophrys Mixed hearing impairment Elliptocytosis Dry skin Abnormality of the pinna Congenital cataract Nail dystrophy Finger syndactyly Microtia Coloboma Blepharophimosis Protruding ear Abnormality of the kidney Broad distal phalanx of finger Mandibular prognathia Hyperhidrosis Syndactyly Renal insufficiency Hypertension Cleft hard palate Mild conductive hearing impairment Bowing of the legs Hydrops fetalis Metaphyseal irregularity Congenital sensorineural hearing impairment Decreased urinary sulfate Increased urinary sulfite Wide nasal bridge Dilatation Pectus excavatum Autism Abnormality of the nervous system Muscular hypotonia of the trunk Hypopigmentation of the skin Bilateral sensorineural hearing impairment Aganglionic megacolon Cafe-au-lait spot Hypopigmented skin patches Anosmia Albinism Molybdenum cofactor deficiency White forelock Dilated vestibule of the inner ear Aplasia of the semicircular canal Hypoplasia of the semicircular canal White eyebrow White eyelashes Hypopigmentation of the fundus White hair Premature graying of hair Generalized hypopigmentation Misalignment of teeth Heterochromia iridis Blue irides Ocular albinism Hypoplasia of the iris Sulfite oxidase deficiency Generalized dystonia Abnormality of cardiovascular system morphology Hypogonadotrophic hypogonadism Hyperreflexia Dysarthria Dysphagia Hypoplasia of the corpus callosum Intellectual disability, mild Hypogonadism Dysmetria Falls Hypodontia Abnormal cerebellum morphology Intention tremor Frequent falls Leukodystrophy Horizontal nystagmus Oligodontia Restlessness Choreoathetosis Basal ganglia calcification Agitation Ectopia lentis Hemiplegia Infantile muscular hypotonia Aspiration Cerebellar vermis hypoplasia Dysdiadochokinesis Eczema Dystonia Impaired horizontal smooth pursuit Delayed eruption of primary teeth Motor deterioration Progressive spasticity Microcephaly Abnormal heart morphology Rickets Hyperthyroidism Joint hyperflexibility Bruising susceptibility Microdontia Abnormality of the ribs Blue sclerae Abnormal form of the vertebral bodies Abnormality of the metaphysis Bowing of the long bones Wormian bones Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Central hypotonia Skeletal dysplasia Orbital craniosynostosis Elevated alkaline phosphatase Aminoaciduria Hypocalcemia Bone pain Malabsorption Difficulty walking Crumpled long bones Turricephaly Multiple suture craniosynostosis Severe hydrops fetalis Vertebral compression fractures Communicating hydrocephalus Coronal craniosynostosis Shallow orbits Craniosynostosis Osteopenia Delayed skeletal maturation Abnormal corpus callosum morphology Obesity Abnormality of the skeletal system Pain Lacrimal duct aplasia Aplasia/Hypoplasia of the distal phalanges of the hand Delayed eruption of permanent teeth Long eyelashes Brachycephaly Sparse scalp hair Dandy-Walker malformation Wide nose Hirsutism Thick eyebrow Wide mouth Osteoporosis Aggressive behavior Proptosis Pseudohypoparathyroidism Severe short stature Kyphosis Edema Hydrocephalus Hypertelorism Ectopic calcification Short 4th metacarpal Short foot Impulsivity Short metatarsal Cerebral calcification Short metacarpal Round face Full cheeks Duplication of renal pelvis


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