Cardiomyopathy, and Microdontia

Diseases related with Cardiomyopathy and Microdontia

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


Top matches:

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

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Other less relevant matches:

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Low 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 SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match TOOTH AGENESIS, SELECTIVE, 3; STHAG3


TOOTH AGENESIS, SELECTIVE, 3; STHAG3 Is also known as hypodontia/oligodontia 3

Related symptoms:

  • Microdontia
  • Oligodontia


SOURCES: MESH OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 3; STHAG3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Microdontia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Microdontia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Widely spaced teeth

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Carious teeth Sensorineural hearing impairment Hypertension Hypothyroidism Abnormal heart morphology Micrognathia Intrauterine growth retardation Osteopenia Glaucoma Abnormality of dental enamel Muscular hypotonia Headache Wide nasal bridge Myopia Ventricular septal defect Behavioral abnormality Constipation Pneumonia Short neck Corneal opacity Cardiomegaly Kyphosis Craniosynostosis Abnormal form of the vertebral bodies Failure to thrive Macrocephaly Anemia Hernia Hepatomegaly Inguinal hernia Long philtrum Delayed skeletal maturation Seizures Sleep disturbance Small for gestational age Malabsorption Hypertelorism Congestive heart failure Feeding difficulties Atrial septal defect Thin upper lip vermilion Proteinuria Intellectual disability, mild Delayed speech and language development Recurrent otitis media Cryptorchidism Microcephaly Pectus carinatum Genu valgum Opacification of the corneal stroma Synophrys Coarse facial features Protuberant abdomen Skeletal dysplasia Joint laxity Postnatal growth retardation Strabismus Delayed eruption of teeth Proptosis Elevated hepatic transaminase Joint stiffness Gait disturbance Intellectual disability, severe Steatorrhea Motor delay Recurrent respiratory infections Elbow flexion contracture Abdominal pain Multiple joint contractures Kyphoscoliosis Anteverted nares Thick vermilion border Umbilical hernia Depressivity Diarrhea Vomiting Cleft palate Thrombocytopenia Heart murmur Ptosis Macroglossia Severe short stature Hirsutism Stroke Immunodeficiency Low-set ears Recurrent infections Clinodactyly of the 5th finger Astigmatism Hip dislocation Abnormal cardiac septum morphology Autistic behavior Hypertrophic cardiomyopathy Lumbar hyperlordosis Gastroesophageal reflux Autism Prominent forehead Otitis media Abnormality of the skeletal system Conductive hearing impairment

Rare Symptoms - Less than 30% cases


Wide nose Camptodactyly of finger Abnormal pyramidal sign Dolichocephaly Nyctalopia Retinal degeneration Renal hypoplasia Hepatosplenomegaly Coarse hair Abnormality of the kidney Developmental regression Hyperlordosis Scarring Platyspondyly Abnormality of skin pigmentation Neutropenia Intellectual disability, profound Abnormality of epiphysis morphology Bone marrow hypocellularity Reduced bone mineral density Nephritis Arthralgia Abnormality of the vasculature Ovoid vertebral bodies Villous atrophy Cerebral ischemia Subvalvular aortic stenosis Mucopolysacchariduria Respiratory insufficiency Splenomegaly Nephrocalcinosis Pes cavus Respiratory distress Retrognathia Visual impairment Abnormality of the ribs Anterior rib cupping Urinary glycosaminoglycan excretion Increased size of nasopharyngeal adenoids Full cheeks Abnormality of lysosomal metabolism Abnormality of the tonsils Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Hernia of the abdominal wall Broad nasal tip Heparan sulfate excretion in urine Abnormality of the cardiovascular system J-shaped sella turcica Hip subluxation Abnormality of the gingiva Abnormal nerve conduction velocity Neoplasm Everted lower lip vermilion Myelopathy Incoordination Sepsis High, narrow palate Hypertrichosis Recurrent urinary tract infections Long eyelashes Increased body weight Thick eyebrow Hydrocephalus Flexion contracture Pulmonic stenosis Wide mouth Pallor Respiratory tract infection Hypertonia Abnormal diaphysis morphology Sagittal craniosynostosis Asthma Coxa vara Coxa valga Generalized hirsutism Short ribs Aortic valve stenosis Abnormal vertebral morphology Gingival overgrowth Thickened skin Increased intracranial pressure Vesicoureteral reflux Progressive visual loss Progressive hearing impairment Hip dysplasia Large earlobe Limitation of joint mobility Arnold-Chiari malformation Back pain Myocardial infarction Obstructive sleep apnea Flared iliac wings Cor pulmonale Communicating hydrocephalus Tracheal stenosis Dysostosis multiplex Diastasis recti Peripheral visual field loss Chronic otitis media Mitral regurgitation Spinal canal stenosis Arthropathy Abnormal heart valve morphology Restrictive ventilatory defect Toe walking Abnormality of dental morphology Rhinitis Abnormality of glycosaminoglycan metabolism Renal insufficiency Cleft lip Protruding tongue Perimembranous ventricular septal defect Edema Short nose Hypospadias Diabetes mellitus Micropenis Downturned corners of mouth Obsessive-compulsive behavior Single transverse palmar crease Generalized muscle weakness Hypoplasia of penis Pointed chin Oligodontia Portal hypertension Hypoplastic nipples 2-3 toe syndactyly Epicanthus Exocrine pancreatic insufficiency Syndactyly Bulbous nose Blepharophimosis Amblyopia Narrow mouth Torticollis Hypoplasia of teeth Myopathy Abnormality of cardiovascular system morphology Tetralogy of Fallot Talipes equinovarus Patent ductus arteriosus Arrhythmia Hypoglycemia Toe syndactyly Hypoplasia of the maxilla Sudden cardiac death Esotropia Facial cleft Hypocalcemia Dilated cardiomyopathy Lacrimation abnormality Fever Colonic diverticula Pain Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Ataxia Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Stiff interphalangeal joints Persistence of hemoglobin F Cataract Spasticity Hyperreflexia Dysarthria Tremor Metaphyseal sclerosis Abnormal mandible coronoid process morphology Abnormality of the tympanic membrane Midface retrusion Broad ischia Proximal femoral metaphyseal irregularity C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Flaring of rib cage Abnormality of joint mobility Abnormality of the wing of the ilium Delayed tarsal ossification Thick skull base Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Malar flattening Obesity Absent speech Recurrent viral infections Neurological speech impairment Nausea and vomiting Joint hyperflexibility Smooth philtrum Dysmetria Oral cleft Postural instability Attention deficit hyperactivity disorder Aplastic anemia Hypodontia Chest pain Dental malocclusion Renal agenesis Dehydration Narrow forehead Broad forehead Paralysis Hypoplasia of the femoral head Cerebral cortical atrophy Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Pectus excavatum Elevated serum creatine phosphokinase Acute monocytic leukemia Cerebellar hypoplasia Osteoporosis High forehead Protruding ear Macrotia Pes planus Anxiety Intellectual disability, moderate Low-set, posteriorly rotated ears Feeding difficulties in infancy Irritability Calcification of falx cerebri Lumbar kyphosis Abnormality of the pubic bone Shallow orbits Coronary artery atherosclerosis Thickened calvaria Thoracic scoliosis Short clavicles Hypoplasia of the odontoid process Palpebral edema Abnormality of the elbow Metatarsus adductus Recurrent lower respiratory tract infections Abnormality of the skull Abnormality of the clavicle Gingivitis Abnormality of the respiratory system Beaking of vertebral bodies Posteriorly rotated ears Flared metaphysis Stridor Hypoplastic ilia Cerebral palsy Chronic diarrhea Microtia Exotropia Spastic paraparesis Narrow sacroiliac notch Aortic regurgitation Proximal femoral epiphysiolysis Metaphyseal dysostosis Language impairment Corneal dystrophy Sleep apnea Hyperammonemia Recurrent upper respiratory tract infections Prominent supraorbital ridges Myocardial necrosis Hemiplegia Upper airway obstruction Angina pectoris Mitral valve prolapse Abnormal hand morphology Meckel diverticulum Narrow pelvis bone Flared nostrils Large sella turcica Microphthalmia Prominent sternum Atlantoaxial dislocation Enlargement of the wrists Difficulty standing Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Abnormal CNS myelination Anterior open bite Sclerosis of skull base Conical tooth Abnormality of peripheral nerve conduction Foam cells Pulmonary edema Abnormal mitral valve morphology Seborrheic dermatitis Endocardial fibroelastosis Constrictive median neuropathy Abnormal aortic valve morphology Rhinorrhea Large face Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Recurrent ear infections Retinal fold Chronic rhinitis Biconcave vertebral bodies Hypotelorism Functional abnormality of male internal genitalia Stellate iris Phonophobia Periorbital edema Rectal prolapse Leukemia Arterial stenosis Dysgraphia Abnormality of nervous system morphology Parathyroid hyperplasia Cystic renal dysplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Peptic ulcer Narrow chest Vascular tortuosity Enuresis Right ventricular hypertrophy Tubulointerstitial nephritis Abnormality of the neck Apraxia Eczema Abnormality of the cerebral vasculature Specific learning disability Dyslexia Bladder diverticulum Abnormality of refraction Gait imbalance Ichthyosis Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Abnormal renal morphology Renal duplication Abnormality of the ankles Hypoplasia of the zygomatic bone Abnormality of the diencephalon Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Medial flaring of the eyebrow Abnormal social behavior Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Flat cornea Renovascular hypertension Tubulointerstitial abnormality Renal artery stenosis Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Atrophy/Degeneration involving the corticospinal tracts Synostosis of joints Abnormality of the bladder Coronary artery stenosis Abnormality of the gastric mucosa Retinal arteriolar tortuosity Vocal cord dysfunction Hyperacusis Pelvic kidney Descending aorta hypoplasia Food intolerance Infantile hypercalcemia Chronic constipation Blue irides Acute myeloid leukemia Schizophrenia Cutis laxa Abnormal dermatoglyphics Bicuspid aortic valve Sacral dimple Ischemic stroke Infantile muscular hypotonia Adducted thumb Spina bifida occulta Abnormality of pelvic girdle bone morphology Polycystic ovaries Dysphonia Hypercalciuria Cholelithiasis Redundant skin Hypercalcemia Left ventricular hypertrophy Abnormality of the fingernails Failure to thrive in infancy Hemiparesis Myeloid leukemia Coarctation of aorta Hypsarrhythmia Type II diabetes mellitus Ventricular hypertrophy Small nail Thick lower lip vermilion Open mouth Multiple lipomas Involuntary movements Nephrolithiasis Hoarse voice Narrow face Increased bone mineral density Hypogonadotrophic hypogonadism Hemivertebrae Short thorax Radioulnar synostosis Vocal cord paralysis Recurrent bacterial infections Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Poor coordination Leukopenia Pulmonary artery stenosis Insomnia Type I diabetes mellitus Patellar dislocation Multiple renal cysts Decreased liver function Abnormality of the metaphysis Down-sloping shoulders Pancytopenia Megalocornea Restlessness Precocious puberty Metaphyseal widening Neonatal respiratory distress Abnormality of the voice Unilateral renal agenesis Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Prematurely aged appearance Open bite Myelodysplasia Hallux valgus Premature graying of hair Vertebral segmentation defect Celiac disease High hypermetropia Abnormality of extrapyramidal motor function Apnea Decreased body weight Hypotrichosis Abdominal distention Hypermetropia Hepatic failure Limb muscle weakness Anal atresia Lower limb muscle weakness Abnormality of the liver Underdeveloped nasal alae Hydronephrosis Upslanted palpebral fissure Alopecia Dilatation Lower limb spasticity Fatigue Abnormality of retinal pigmentation Intestinal malrotation Growth hormone deficiency Atrioventricular dissociation Abnormality of the genitourinary system Anteriorly placed anus Glycosuria Agenesis of permanent teeth Hydroureter Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Severe muscular hypotonia Convex nasal ridge Hyperkeratosis Hyperbilirubinemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Cholestasis Sparse scalp hair Abnormal direction of ventricular apex T-wave alternans Lateral displacement of the femoral head Ventricular arrhythmia Spinal cord compression Patent foramen ovale Hypoplastic iliac wing Abnormality of the ulna Atrioventricular block Optic nerve hypoplasia Hydrocele testis Sparse axillary hair Papilledema Broad ribs Sparse pubic hair Dilation of lateral ventricles Cutaneous syndactyly Ventricular tachycardia Shield chest Nasal obstruction Chronic sinusitis Blepharitis Abnormality of dental color Easy fatigability Congenital hip dislocation Frontal balding Knee flexion contracture Biventricular hypertrophy Abnormality of the metacarpal bones Cutaneous syndactyly of toes Torsade de pointes Hypothermia Ventricular fibrillation Amelogenesis imperfecta Cutaneous finger syndactyly Exertional dyspnea Bronchitis Mixed hearing impairment Hyperactive deep tendon reflexes Prolonged QT interval Hypopituitarism Nephrosclerosis Abnormal cornea morphology Skin dimples Waddling gait Decreased testicular size Nephrotic syndrome Uterus didelphys Frontal upsweep of hair Fine hair Abnormal lung morphology Heterotopia Premature birth Aplasia cutis congenita of scalp Lymphopenia Abnormal vagina morphology Atherosclerosis Hyperlipidemia Azoospermia Abnormality of the pancreas Lymphoma Migraine Chronic kidney disease Anasarca Dementia Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Autoimmunity Septate vagina Brain atrophy Absent lacrimal punctum Increased VLDL cholesterol concentration Stage 5 chronic kidney disease Nephropathy Abnormality of the nares Abnormal cerebellum morphology Gliosis Rectovaginal fistula Encephalitis Anterior pituitary dysgenesis Multiple lentigines Anal stenosis Precocious atherosclerosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Steroid-resistant nephrotic syndrome B-cell lymphoma Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Lymphoproliferative disorder Disproportionate short-trunk short stature Glomerulosclerosis High pitched voice Epiphyseal dysplasia Glomerulonephritis Hypoproteinemia Melanocytic nevus Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Emphysema Combined immunodeficiency Fair hair Hypermelanotic macule Multiple cafe-au-lait spots Glomerulopathy Abnormal hair pattern Calvarial skull defect Transient ischemic attack Thoracic kyphosis Cardiac arrest Bradycardia Encephalocele Aspiration pneumonia Abnormality of digit Weak cry Dislocated radial head Oligodactyly Ectrodactyly Poor appetite Hiatus hernia Esophagitis Opisthotonus Hypoplastic labia majora Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Panhypopituitarism Limited elbow extension Ectopic kidney Short sternum Scrotal hypoplasia Aspiration Low anterior hairline Prominent occiput Spontaneous abortion Relative macrocephaly Hypoplasia of the radius Abnormality of the urinary system Deep philtrum Short middle phalanx of finger Short metatarsal Pyloric stenosis Self-injurious behavior Proximal placement of thumb Clubbing Tricuspid regurgitation Cutis marmorata Peters anomaly Hand oligodactyly Choanal atresia Inability to walk Dyspnea Cerebellar atrophy Mental deterioration Retinopathy Severe global developmental delay Abnormality of eye movement Dry skin Macular degeneration Frontal bossing Neurodegeneration Delayed myelination Abnormality of the skin Interphalangeal joint contracture of finger Talipes Progressive neurologic deterioration Split hand Visual loss Skeletal muscle atrophy Phocomelia Left-to-right shunt Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Hypertropia Projectile vomiting Abnormality of the outer ear Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Congenital hypothyroidism Patellar hypoplasia Carpal bone hypoplasia Coma Abnormality of the acetabulum Limited shoulder movement Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Posterior scalloping of vertebral bodies Thickened ribs Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Abnormality of cranial sutures Abnormality of the glenoid fossa Syncope Progressive flexion contractures Joint hypermobility Abnormality of the optic disc Platybasia Wide cranial sutures Sinusitis Peripheral edema Corneal crystals Abnormality of the radius Aortic valve calcification Hypoplasia of dental enamel Optic nerve compression Abnormality of the face Pulmonary arterial hypertension Mitral valve calcification Delayed menarche Round face Cervical instability Frontal hirsutism Abnormality of the lumbar spine Widely patent coronal suture Low posterior hairline Renal cyst Dysphagia Pulmonary hypoplasia Multiple bladder diverticula Small hand Highly arched eyebrow Tapered finger Microcornea Triangular face Cleft upper lip Neonatal asphyxia Abnormal palmar dermatoglyphics Webbed neck Congenital diaphragmatic hernia High myopia Blue sclerae Epicanthus inversus Thin vermilion border Vertigo Contractures of the joints of the upper limbs Hyperhidrosis Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Nystagmus High palate Optic atrophy Encephalopathy Clinodactyly Brachycephaly Micromelia Hyperactivity Mandibular prognathia Aggressive behavior Telecanthus Camptodactyly Abnormality of the pinna Prominent nasal bridge Irregular ossification at anterior rib ends



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