Generalized hypotonia, and Hypodontia

Diseases related with Generalized hypotonia and Hypodontia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Hypodontia 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

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Other less relevant matches:

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

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

High match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

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

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

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hypodontia

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

Other less frequent symptoms

Patients with Generalized hypotonia and Hypodontia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Spasticity Hypertelorism High palate Wide nasal bridge Severe short stature Strabismus Nystagmus Abnormal facial shape Myopia Atrial septal defect Growth delay Abnormality of the dentition Microdontia Epicanthus Brachydactyly High forehead Hypertonia Dystonia Optic atrophy Hepatomegaly Failure to thrive Sparse hair Depressed nasal bridge Postnatal growth retardation Neonatal hypotonia Muscular hypotonia Brachycephaly Hypoplasia of the corpus callosum Hyperreflexia Dolichocephaly

Rare Symptoms - Less than 30% cases

Clinodactyly of the 5th finger Hearing impairment Widely spaced teeth High anterior hairline Neoplasm Macrocephaly Ventriculomegaly Congestive heart failure Overgrowth Pointed chin Highly arched eyebrow Vesicoureteral reflux Polydactyly Synophrys Nephroblastoma Scaphocephaly Joint laxity High, narrow palate Hypoplasia of dental enamel Cutis laxa Redundant skin Intellectual disability, severe Respiratory failure Prominent forehead Long eyelashes Intellectual disability, moderate Clinodactyly Ventricular septal defect Broad forehead Small for gestational age Abnormality of the skeletal system Single transverse palmar crease Intrauterine growth retardation Cryptorchidism Cupped ear Decreased body weight Retinopathy Otitis media Hirsutism Protruding ear Behavioral abnormality Small nail Fine hair Cleft palate Scoliosis Pigmentary retinopathy Neurological speech impairment Downslanted palpebral fissures Finger syndactyly Hypermetropia Leukodystrophy Ataxia Thin upper lip vermilion Dysphagia Cerebellar atrophy Delayed speech and language development Feeding difficulties Babinski sign Muscular hypotonia of the trunk Oligodontia Cyanosis Hypogonadism Dysarthria Delayed skeletal maturation Anteverted nares Renal insufficiency Abnormality of cardiovascular system morphology Hernia Pectus excavatum Osteoporosis Depressivity Photophobia Retinal dystrophy Telecanthus Intellectual disability, mild Craniosynostosis Narrow chest Joint hyperflexibility Stage 5 chronic kidney disease Hepatic failure Short distal phalanx of finger Infertility Constrictive pericarditis Rhizomelia Hypocalcemia Short ribs Short toe Cardiomyopathy Edema Hepatic fibrosis Delayed eruption of teeth Nephropathy Omphalocele Abnormality of the metaphysis Hypotelorism Limb undergrowth Ectodermal dysplasia Full cheeks Everted lower lip vermilion Pericardial constriction Hypoplastic frontal sinuses Astigmatism Type II diabetes mellitus Acanthosis nigricans Gait ataxia Increased body weight Insulin resistance Dental crowding Epidermal acanthosis Dysmetria Cachexia Growth hormone deficiency Decreased antibody level in blood Nevus Abdominal distention Triangular face Ascites Cirrhosis Reduced tendon reflexes Premature ovarian insufficiency J-shaped sella turcica Diabetes mellitus Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Abnormality of dental enamel Microglossia Hepatosplenomegaly Delayed puberty Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis Abnormality of the nervous system Falls High pitched voice Myocardial fibrosis Agenesis of corpus callosum Abnormality of the fingernails Lymphedema Precocious puberty Reduced number of teeth Abnormal dermatoglyphics Accelerated skeletal maturation Narrow palate Narrow face Abnormal vertebral morphology Tall stature Agenesis of permanent teeth Heterotopia Clumsiness Apraxia Sloping forehead Renal agenesis Joint hypermobility Genu valgum Leukemia Large hands Partial agenesis of the corpus callosum Abnormality of the kidney Abnormal glucose tolerance Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Periventricular leukomalacia Prolonged neonatal jaundice Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna Poor coordination Acute lymphoblastic leukemia Neuroblastoma Respiratory tract infection Aggressive behavior Intention tremor Fibular hypoplasia Slow-growing hair Abnormal toenail morphology Elevated serum creatinine Anodontia Tubulointerstitial nephritis Taurodontia Protuberant abdomen Short humerus Hepatic cysts High hypermetropia Prominent occiput Short thorax Thoracic hypoplasia Abnormality of dental morphology Radial deviation of finger Chronic kidney disease Bicuspid aortic valve Sagittal craniosynostosis Abnormal diaphysis morphology Carcinoma Malformation of the hepatic ductal plate Conductive hearing impairment Jaundice Pes planus Coarse facial features Macrotia Mandibular prognathia Abnormal heart morphology Patent ductus arteriosus Broad distal phalanges of all fingers Abnormality of the abdominal wall Incisional hernia Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormal cerebellum morphology Clinodactyly of the 5th toe Motor delay Elevated hepatic transaminase Retinal degeneration Abnormality of the cerebral white matter Severe global developmental delay Eosinophilia Myopathic facies Irritability Developmental regression EEG abnormality Brain atrophy Osteopenia Delayed ability to walk Thin eyebrow Myoclonus Abnormality of metabolism/homeostasis Blindness Fever Tetraplegia Peripheral demyelination Absent speech CNS demyelination Prominent nose Hypsarrhythmia Short palpebral fissure Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration Decreased light- and dark-adapted electroretinogram amplitude Narrow palpebral fissure Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Spastic tetraplegia Bilateral sensorineural hearing impairment Generalized-onset seizure Respiratory insufficiency Gait disturbance Feeding difficulties in infancy Involuntary movements Abnormality of the outer ear Recurrent urinary tract infections Inflammatory abnormality of the skin Depressed nasal ridge Renal hypoplasia Oligohydramnios Choreoathetosis Flat face Patent foramen ovale Anal atresia Multifocal seizures Microtia Focal clonic seizures Abnormality of the pinna Short neck Short nose Midface retrusion Deep philtrum Epiphyseal dysplasia Encephalopathy Hypoplastic helices Generalized tonic-clonic seizures Low-set ears Abnormality of eye movement Sensorineural hearing impairment Epileptic encephalopathy Status epilepticus Dysplasia of the femoral head Dysplastic corpus callosum Overlapping toe Vertebral clefting Anotia Coronal cleft vertebrae Bifid nasal tip Atopic dermatitis Hypoplasia of the odontoid process Aplasia cutis congenita Metaphyseal dysplasia Asthma Unsteady gait Frequent falls Postnatal microcephaly Mutism Horizontal nystagmus Cutaneous syndactyly Short chin Finger clinodactyly Generalized hirsutism Bilateral single transverse palmar creases Hypertrichosis Supernumerary nipple Hypogonadotrophic hypogonadism Ambiguous genitalia Specific learning disability Underdeveloped nasal alae Limitation of joint mobility CNS hypomyelination Wide nose Thick eyebrow Short middle phalanx of finger Dysphasia Thin vermilion border Cutaneous syndactyly of toes 2-4 toe syndactyly Frontal hirsutism Enlarged epiphyses Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Broad columella Aphasia Echolalia Low hanging columella Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Abnormality of digit Narrow nasal bridge Bulbous nose Smooth philtrum Pulmonic stenosis Natal tooth Sparse lateral eyebrow Generalized joint laxity Short 5th finger Depressed nasal tip Short columella Neonatal hypoglycemia Central hypotonia Long palpebral fissure Prominent fingertip pads Atrioventricular canal defect Narrow mouth Anxiety Recurrent otitis media Coarctation of aorta Attention deficit hyperactivity disorder Dental malocclusion Broad nasal tip Long hallux Abnormality of the breast Paraplegia Proptosis Toe syndactyly Dysdiadochokinesis Progressive spasticity Motor deterioration Prominent nasal bridge Short philtrum Cerebral hypomyelination Delayed eruption of primary teeth Eversion of lateral third of lower eyelids Impaired horizontal smooth pursuit Syndactyly Long philtrum Immunodeficiency Recurrent infections Visual impairment Hyperactivity Micrognathia Abnormality of the cerebral ventricles


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hyperinsulinemia, related diseases and genetic alterations Wide nasal bridge and Retinal detachment, related diseases and genetic alterations Obesity and Hypoglycemia, related diseases and genetic alterations Failure to thrive and Hyperhidrosis, related diseases and genetic alterations Sensorineural hearing impairment and Acute lymphoblastic leukemia, related diseases and genetic alterations