Myopathy, and Hypodontia

Diseases related with Myopathy and Hypodontia

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


Top matches:

High match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE


EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE Is also known as epidermolysis bullosa junctionalis, progressive|epidermolysis bullosa junctionalis, non-herlitz type|epidermolysis bullosa junctionalis, disentis type|epidermolysis bullosa junctionalis, severe nonlethal|epidermolysis bullosa, generalized atrophic benign|

Related symptoms:

  • Abnormality of the dentition
  • Alopecia
  • Scarring
  • Camptodactyly of finger
  • Nail dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

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Other less relevant matches:

Low 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

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match ANAUXETIC DYSPLASIA


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

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Low match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Top 5 symptoms//phenotypes associated to Myopathy and Hypodontia

Symptoms // Phenotype % cases
Flexion contracture Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Carious teeth Scoliosis Oral cleft Growth delay Split hand Joint laxity Kyphoscoliosis Cleft palate Abnormality of the dentition Alopecia Bifid uvula Midface retrusion

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Skeletal dysplasia Respiratory distress Hyperlordosis Kyphosis Cleft lip Joint contracture of the hand Short femoral neck Pes planus Osteopenia Delayed skeletal maturation Hypothyroidism Joint stiffness Lacrimal duct atresia Ectrodactyly Scarring Camptodactyly Hallux valgus Abnormality of dental morphology Camptodactyly of finger Nail dystrophy Dermal atrophy Hypogonadism Melanocytic nevus Small nail Brachydactyly Finger syndactyly Split foot Toe syndactyly Ectodermal dysplasia Microdontia Otitis media Dental malocclusion Thin skin Macroglossia Abnormality of the nail Hypoplastic nipples Wide nasal bridge Macrocephaly Neurological speech impairment Waddling gait Feeding difficulties Genu valgum Hypoplasia of the capital femoral epiphysis Flattened epiphysis Arthralgia Gait disturbance Global developmental delay Microcephaly Micrognathia Depressed nasal bridge Abnormal facial shape Pain Cryptorchidism Failure to thrive Increased nuchal translucency Peptic ulcer Skin vesicle Atrophic scars Bladder diverticulum Milia Fibrous syngnathia Hypoplasia of dental enamel Abnormal blistering of the skin Cystic renal dysplasia Lower lip pit Plantar hyperkeratosis Periorbital edema Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Rectal prolapse Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Fragile nails Oral mucosal blisters Nystagmus-induced head nodding Reduced subcutaneous adipose tissue Popliteal pterygium Nonketotic hyperglycinemia 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 Motor deterioration Adrenal insufficiency Lacrimation abnormality Lip pit Gynecomastia Hyperpigmentation of the skin Delayed puberty Abnormal renal morphology Intellectual disability, severe Skeletal muscle atrophy Palmar hyperhidrosis Loss of eyelashes Overfriendliness Thyroid hemiagenesis Retinal vascular tortuosity Aortic arch aneurysm Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Urethral stenosis Obsessive-compulsive trait Overriding aorta Parathyroid hyperplasia Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Abnormal glucose tolerance Hyperacusis Pelvic kidney Bilateral vocal cord paralysis Unilateral renal hypoplasia Arterial stenosis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Clinodactyly Myxomatous mitral valve degeneration Dysgraphia Calcification of the aorta Food intolerance Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormality of nervous system morphology Phonophobia Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Abnormality of the metaphysis Hypoplastic labia majora Hyperhidrosis Moderately short stature Thoracolumbar kyphoscoliosis Delayed ossification of carpal bones Shield chest Spondyloepimetaphyseal dysplasia Hypoplastic ilia Broad ribs Ovoid vertebral bodies Thoracolumbar scoliosis Metaphyseal dysplasia Metaphyseal irregularity Increased vertebral height Cigarette-paper scars Cone-shaped epiphysis Cubitus valgus Relative macrocephaly Absent palmar crease Coxa vara Coxa valga Difficulty walking Elbow flexion contracture Lumbar hyperlordosis Thenar muscle atrophy Hypoplasia of the femoral head Sparse hair Proptosis Blue sclerae Short metacarpal Hyperextensible skin Delayed eruption of teeth Tapered finger Metaphyseal widening Bruising susceptibility Irregular vertebral endplates Platyspondyly Postnatal growth retardation Downslanted palpebral fissures Hypoplastic iliac body Prominent superficial veins High palate Gonadal dysgenesis Hypergonadotropic hypogonadism Broad femoral neck Hypohidrosis Primary amenorrhea Amenorrhea Flat capital femoral epiphysis Cervical spine instability Limb undergrowth Thin upper lip vermilion Ankyloblepharon Pterygium Skin ulcer Abnormality of the face Abnormality of the genital system Generalized hirsutism Cerebral palsy Inflammatory abnormality of the skin Sparse scalp hair Scrotal hypoplasia Cutaneous photosensitivity Fine hair Conjunctivitis Bifid scrotum Eczema Wide intermamillary distance Non-midline cleft lip Dry skin Anal atresia Short phalanx of finger Hypotrichosis Ankyloglossia Prominent nasal bridge Finger clinodactyly Choanal atresia Severe short stature Nasolacrimal duct obstruction Short neck Adermatoglyphia Premature loss of permanent teeth Conical incisor Cleft upper lip Nail pits Falls Lacrimal duct stenosis Fingernail dysplasia Toenail dysplasia Breast hypoplasia Oligodontia Absent nipple Sparse axillary hair Generalized hypopigmentation Fair hair Peripheral pulmonary artery stenosis Specific learning disability Alopecia of scalp Ambiguous genitalia Abnormality of the ribs Freckling Subvalvular aortic stenosis Arnold-Chiari type I malformation Decreased plasma carnitine High forehead Feeding difficulties in infancy Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Hypertrophic cardiomyopathy Proteinuria Anxiety Umbilical hernia Coarse facial features Macrotia Gastroesophageal reflux Irritability Autism Micropenis Cerebral cortical atrophy Glaucoma Abdominal pain Diabetes mellitus Osteoporosis Recurrent respiratory infections Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Developmental regression Protruding ear Abnormal heart morphology Malabsorption Chest pain Sudden cardiac death Full cheeks Broad nasal tip Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Dysmetria Smooth philtrum Joint hyperflexibility Nausea and vomiting Autistic behavior Pulmonic stenosis Corneal opacity Small for gestational age Broad forehead Stroke Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Blepharophimosis Craniosynostosis Wide mouth Paralysis Inguinal hernia Patent ductus arteriosus Esotropia Multiple epiphyseal dysplasia Sensorineural hearing impairment Strabismus Ataxia Hearing impairment Generalized hypotonia Seizures Ankle pain Knee osteoarthritis Osteochondritis Dissecans Small epiphyses Irregular epiphyses Abnormal joint morphology Cataract Mild short stature Epiphyseal dysplasia Genu varum Abnormality of epiphysis morphology Osteoarthritis Hip dysplasia Limitation of joint mobility Short palm Micromelia Proximal muscle weakness Frontal bossing Muscular hypotonia Spasticity Pectus excavatum Hypertonia Depressivity Obesity Hernia Absent speech Malar flattening Renal insufficiency Long philtrum Short nose Intellectual disability, mild Behavioral abnormality Congestive heart failure Atrial septal defect Ptosis Ventricular septal defect Tremor Intrauterine growth retardation Myopia Dysarthria Hyperreflexia Epicanthus Hypertension Visual impairment Delayed speech and language development Cognitive impairment Vesicoureteral reflux Renal agenesis Periorbital fullness Glucose intolerance Restlessness Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Open bite Loss of consciousness Polyuria Tracheoesophageal fistula Megalocornea Hypoplastic toenails Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Insomnia Abnormality of lipid metabolism Cholelithiasis Chronic constipation Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Hypoplasia of the zygomatic bone Posterior embryotoxon Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Muscle weakness Redundant skin Hypercalciuria Dehydration Renal hypoplasia Amblyopia Nephrolithiasis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Thick lower lip vermilion Ventricular hypertrophy Aortic valve stenosis Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Hypotelorism Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Gingival overgrowth Hoarse voice Dysphonia Widely spaced teeth Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Progressive hearing impairment Narrow face Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Increased body weight Increased bone mineral density Intercrural pterygium



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Brachycephaly, related diseases and genetic alterations Tremor and Small hand, related diseases and genetic alterations Hydrocephalus and Carious teeth, related diseases and genetic alterations

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