Congestive heart failure, and Microdontia

Diseases related with Congestive heart failure and Microdontia

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


Top matches:

Medium match CRANIOECTODERMAL DYSPLASIA


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

Medium 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

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

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Other less relevant matches:

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 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 JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN 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 INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Microdontia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental 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 Congestive heart failure and Microdontia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

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


Seizures

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition

Common Symptoms - More than 50% cases


Craniosynostosis

Uncommon Symptoms - Between 30% and 50% cases


Abnormal form of the vertebral bodies

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of dental morphology

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia

Common Symptoms - More than 50% cases


Osteopenia

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Hernia

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of dental enamel Umbilical hernia Kyphosis Generalized hypotonia Corneal opacity Short neck Epicanthus Frontal bossing Macrocephaly Widely spaced teeth Glaucoma Kyphoscoliosis Micrognathia Pectus excavatum Intellectual disability, mild Recurrent respiratory infections Genu valgum Cutis laxa Ventricular septal defect Flexion contracture Gait disturbance Mitral regurgitation Constipation Microcephaly Cardiomegaly Protuberant abdomen Thick vermilion border Hepatomegaly Strabismus Abnormal diaphysis morphology Cataract Hypothyroidism Finger syndactyly Hydrocephalus Everted lower lip vermilion Hypodontia Pes planus Coarse facial features Cardiomyopathy Narrow chest Osteoporosis Camptodactyly of finger Cerebral cortical atrophy Dolichocephaly Diarrhea Pectus carinatum Delayed skeletal maturation Delayed eruption of teeth Feeding difficulties Behavioral abnormality Lumbar hyperlordosis Abdominal pain Hyperlordosis Abnormality of the kidney Long philtrum Visual impairment Restrictive ventilatory defect Abnormality of skin pigmentation Wide mouth Malabsorption Opacification of the corneal stroma Hip dislocation Splenomegaly Elbow flexion contracture Macroglossia Coarse hair Thick eyebrow Conductive hearing impairment Joint stiffness Abnormal cardiac septum morphology Proptosis Prominent forehead Amblyopia Abnormal heart morphology Midface retrusion Respiratory distress Talipes equinovarus Downslanted palpebral fissures Low-set ears Retrognathia Myelopathy Carious teeth Hirsutism Wide nose Sleep disturbance Hepatosplenomegaly Otitis media Recurrent otitis media Aortic valve stenosis Cerebral ischemia Coxa valga Heart murmur Spinal canal stenosis Diastasis recti Respiratory insufficiency Stroke Gingival overgrowth Bicuspid aortic valve Joint hyperflexibility Spina bifida occulta Cryptorchidism Spasticity Full cheeks Schizophrenia Abnormality of the fingernails Atrial septal defect Joint laxity Redundant skin Smooth philtrum Neurological speech impairment Sagittal craniosynostosis Attention deficit hyperactivity disorder Feeding difficulties in infancy Intellectual disability, moderate Protruding ear Single transverse palmar crease Telecanthus Hypertension Brachydactyly Myopia Headache Abnormality of the skeletal system Renal insufficiency Clinodactyly of the 5th finger Rectal prolapse Intrauterine growth retardation High forehead Motor delay

Rare Symptoms - Less than 30% cases


Open mouth Dehydration Loss of consciousness Decreased antibody level in blood Nyctalopia Postural instability Periorbital edema Hyperkeratosis Small for gestational age Soft skin Skin rash Synophrys Retinal degeneration Intellectual disability, severe Endocardial fibroelastosis Camptodactyly Low-set, posteriorly rotated ears Narrow palate Asthma Skeletal dysplasia Abnormality of the hair Hypoplastic fingernail Malar flattening Thick lower lip vermilion Dental malocclusion Vesicoureteral reflux Oral cleft Arthralgia Hydronephrosis Broad forehead Macrotia Hypertonia Coarctation of aorta Urethral stenosis Abnormal pyramidal sign Chronic constipation Pyloric stenosis Pes cavus Infantile muscular hypotonia Horseshoe kidney Pachygyria Limitation of joint mobility Thickened skin Hip dysplasia Edema Heparan sulfate excretion in urine Hernia of the abdominal wall Urinary glycosaminoglycan excretion Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the tonsils Failure to thrive Abnormality of lysosomal metabolism Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Lumbar kyphosis Delayed speech and language development Skeletal muscle atrophy Abnormal hand morphology Hip subluxation Abnormal aortic valve morphology Depressivity Mental deterioration Abnormal mitral valve morphology Severe global developmental delay Large earlobe Radioulnar synostosis Thickened calvaria Broad nasal tip Abnormality of the cardiovascular system Prominent supraorbital ridges Myocardial infarction Decreased body weight Sleep apnea J-shaped sella turcica Abnormality of the gingiva Progressive visual loss Multiple joint contractures Abnormality of the ribs Patent ductus arteriosus Progressive hearing impairment Abnormality of retinal pigmentation Abnormal vertebral morphology Microphthalmia Generalized hirsutism Syndactyly Arnold-Chiari malformation Increased intracranial pressure Back pain Chronic otitis media Short nose Toe walking Abnormal heart valve morphology Abnormal nerve conduction velocity Arthropathy Rhinitis Peripheral visual field loss Obstructive sleep apnea Ventriculomegaly Hypoplastic iliac wing Dysostosis multiplex Tracheal stenosis Communicating hydrocephalus Sparse axillary hair Cor pulmonale Flared iliac wings Optic atrophy Ptosis Metatarsus adductus Palpebral edema Recurrent infections Tubulointerstitial nephritis Encephalitis Stage 5 chronic kidney disease Spondyloepiphyseal dysplasia Tubulointerstitial abnormality Emphysema Short distal phalanx of finger Abnormality of the abdominal wall Abnormal toenail morphology Abnormality of the vasculature High, narrow palate High palate Villous atrophy High hypermetropia Nephropathy Subvalvular aortic stenosis Thoracic hypoplasia Mucopolysacchariduria Chronic kidney disease Hypocalcemia Short ribs Reduced bone mineral density Azoospermia Narrow mouth Astigmatism Thrombocytopenia Immunodeficiency Pneumonia Vomiting Thin upper lip vermilion Proteinuria Developmental regression Scarring Platyspondyly Fever Bone marrow hypocellularity Premature birth Postnatal growth retardation Clinodactyly Intellectual disability, profound Abnormal lung morphology Broad distal phalanges of all fingers Abnormality of cardiovascular system morphology Abnormality of epiphysis morphology Lymphopenia Cleft palate Nephritis Microtia Flat face Left ventricular hypertrophy Blue sclerae Fine hair Hypotelorism Mitral valve prolapse Rhizomelia Webbed neck Short toe Esotropia Short metacarpal Lymphedema Hypermetropia Abnormality of the foot Pulmonic stenosis Talipes Blue irides Hypoplasia of the zygomatic bone Internal hemorrhage Vocal cord paralysis Down-sloping shoulders Right ventricular hypertrophy Multiple renal cysts Patellar dislocation Giant platelets Pulmonary artery stenosis Hypoplastic toenails Poor coordination Toe clinodactyly Nevus flammeus Sparse hair Annular pancreas Facial cleft Hallux valgus Premature graying of hair Vertebral segmentation defect Abnormality of the anus Celiac disease Polyuria Prematurely aged appearance Restlessness Open bite Insomnia Megalocornea Abnormality of the neck Glucose intolerance Abnormality of lipid metabolism Tracheoesophageal fistula Posterior embryotoxon Arnold-Chiari type I malformation Clitoral hypoplasia Abnormality of the cerebral vasculature Parathyroid hyperplasia Abnormality of the head Arterial stenosis Dysgraphia Abnormality of nervous system morphology Nasolacrimal duct obstruction Phonophobia Abnormal glucose tolerance Photophobia Increased nuchal translucency Broad columella Abnormal thrombocyte morphology Labial hypoplasia Retinal vascular tortuosity Thyroid hypoplasia Respiratory failure Peptic ulcer Enuresis Periorbital fullness Dyslexia Macular hypoplasia Unilateral renal agenesis Abnormality of refraction Central hypothyroidism Gait imbalance Decreased plasma carnitine Cystic renal dysplasia Peripheral pulmonary artery stenosis Abnormal renal morphology U-Shaped upper lip vermilion Lacrimation abnormality Abnormality of the metaphysis Bladder diverticulum Long hallux Arteria lusoria Abnormality of the curvature of the vertebral column Obsessive-compulsive behavior Hypoplasia of penis Sudden cardiac death Chest pain Retinal dystrophy Renal agenesis Tetralogy of Fallot Narrow forehead Abnormality of extrapyramidal motor function Dysmetria Hypsarrhythmia Type II diabetes mellitus Ventricular hypertrophy Renal hypoplasia Small nail Hemiparesis Absent speech Nausea and vomiting Involuntary movements Anxiety Cerebellar hypoplasia Diabetes mellitus Micropenis Autism Gastroesophageal reflux Limb undergrowth Hypertrophic cardiomyopathy Ectodermal dysplasia Cleft lip Irritability Autistic behavior Obesity Paralysis Blepharophimosis Hepatic failure Myopathy Abnormality of the voice Hypercalcemia Incoordination Polycystic ovaries Dysphonia Ataxia Hypercalciuria Cholelithiasis Elevated serum creatine phosphokinase Pain Megakaryocyte dysplasia Failure to thrive in infancy Congenital thrombocytopenia Precocious puberty Portal hypertension Bilateral camptodactyly Abnormality of pelvic girdle bone morphology Hyperreflexia Recurrent urinary tract infections Increased body weight Tremor Nephrolithiasis Hoarse voice Abnormal endocardium morphology Narrow face Increased bone mineral density Pointed chin Adducted thumb Hypogonadotrophic hypogonadism Hemivertebrae Nephrocalcinosis Dysarthria Abnormal dermatoglyphics Sacral dimple Ischemic stroke Patent foramen ovale Infantile hypercalcemia Aplasia/Hypoplasia of the iris Conical incisor Primary hypothyroidism Abnormal oral mucosa morphology Intestinal lymphangiectasia Erysipelas Lymphangioma Pulmonary lymphangiectasia Severe hydrops fetalis Benign neoplasm of the central nervous system Protein-losing enteropathy Mild postnatal growth retardation Thyroid lymphangiectasia Pericardial lymphangiectasia Pleural lymphangiectasia Muscle weakness Peripheral neuropathy Hypoplasia of the corpus callosum Mandibular prognathia Chylothorax Generalized edema Joint hypermobility Ectopic kidney Nystagmus Abnormal intestine morphology Cutaneous syndactyly Oligodontia Reduced number of teeth Hypoalbuminemia Pleural effusion Pericardial effusion Hypoproteinemia Cutaneous finger syndactyly Increased number of teeth External ear malformation Coronal craniosynostosis Polysplenia Edema of the lower limbs Arteriovenous malformation Nonimmune hydrops fetalis Dilated cardiomyopathy Highly arched eyebrow Joint contracture of the hand Abnormal tricuspid valve morphology Delayed closure of the anterior fontanelle Advanced eruption of teeth Hyperextensibility of the finger joints Premature loss of primary teeth Thick nasal alae Narrow iliac wings Broad finger Hyperconvex fingernails Restrictive cardiomyopathy Cataplexy Stooped posture Pseudoepiphyses of the metacarpals Retinoschisis Uterine prolapse Bifid sternum Thick nasal septum Abnormality of the nasal alae Craniofacial hyperostosis Acrocyanosis Tapered finger Aplasia/Hypoplasia of the cerebellum Hypoplasia of the maxilla Tetraplegia Psychosis Cerebellar vermis hypoplasia Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Self-injurious behavior Large hands Severe sensorineural hearing impairment Cutis marmorata Abnormality of neuronal migration Broad hallux Progressive spasticity Abnormality of digit Broad palm Atonic seizures Anteriorly placed anus Bilateral single transverse palmar creases Hydrops fetalis Renal duplication Medial flaring of the eyebrow Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Elfin facies Flat cornea Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Supravalvular aortic stenosis Abnormal social behavior Vocal cord dysfunction Synostosis of joints Colonic diverticula Vascular tortuosity Abnormality of the ankles Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Abnormality of the bladder Renovascular hypertension Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Nuclear cataract Abnormality of the gastric mucosa Descending aorta hypoplasia Atrophy/Degeneration involving the corticospinal tracts Ascites Retinal vascular proliferation Supernumerary ribs Asymmetric growth Retinal hemorrhage Absent hand Abnormal chorioretinal morphology Ridged fingernail Broad nail Dilatation Verrucae Hyperactivity Polyhydramnios Respiratory tract infection Short philtrum Lymphadenopathy Short palm Small hand Short foot Deviation of finger Dystrophic toenail Alopecia Osteolysis Hyperhidrosis Erythema Retinal detachment Abnormal blistering of the skin Pulmonary arterial hypertension Skin ulcer Abnormality of the nail Hypopigmented skin patches Hearing abnormality Eosinophilia Keratitis Hemiplegia/hemiparesis Supernumerary nipple Telangiectasia of the skin Abnormality of immune system physiology Irregular hyperpigmentation Uveitis Aplasia/Hypoplasia of the earlobes Hepatic fibrosis Broad hallux phalanx Abnormality of the acetabulum Delayed menarche Cervical instability Frontal hirsutism Optic nerve compression Progressive flexion contractures Thickened ribs Heterotopia Limited shoulder movement Atherosclerosis Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Nephrotic syndrome Posterior scalloping of vertebral bodies Mitral valve calcification Hyperlipidemia Abnormality of the sella turcica Nasal obstruction Glomerulonephritis Broad ribs Sparse pubic hair Dilation of lateral ventricles Epiphyseal dysplasia Glomerulosclerosis Shield chest Abnormal cornea morphology Abnormality of the optic disc Carpal bone hypoplasia Platybasia Wide cranial sutures Peripheral edema Corneal crystals Abnormality of the radius Aortic valve calcification Abnormality of the skull base Abnormal metaphyseal trabeculation Melanocytic nevus Neurodegeneration Apnea Bulbous nose Pallor Retinopathy Abnormality of eye movement Dry skin Inability to walk Autoimmunity Dyspnea Abnormality of the skin Interphalangeal joint contracture of finger Progressive neurologic deterioration Hypertrichosis Split hand Encephalocele Chronic diarrhea Elevated hepatic transaminase Arrhythmia Abnormality of femoral epiphysis Contractures of the joints of the upper limbs Anterior scalloping of vertebral bodies Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Decreased testicular size Widely patent coronal suture Waddling gait Abnormality of the styloid process of ulna Visual loss Abnormality of the humeral epiphysis Lymphoma Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Hydrocele testis Abnormality of the ulna Dementia Meningitis Enlarged metaphyses Prominent antitragus Spatulate thumbs Metacarpophalangeal joint hyperextensibility Bilateral elbow dislocations Microretrognathia Joint dislocation Low posterior hairline Hypertropia Congenital diaphragmatic hernia Severe short stature Recurrent fractures Arachnodactyly Brachycephaly Lateral displacement of the femoral head Nephrosclerosis Accessory carpal bones Shoulder dislocation Lower limb muscle weakness Overlapping fingers Bilateral talipes equinovarus Congenital glaucoma Sandal gap Narrow nasal bridge Aortic root aneurysm Upper limb undergrowth Abnormally large globe 11 pairs of ribs Multiple joint dislocation Generalized osteoporosis Small face Deep palmar crease Accelerated skeletal maturation Lumbar scoliosis Knee dislocation Talipes equinovalgus Limb muscle weakness Anterior pituitary dysgenesis Focal segmental glomerulosclerosis Hyperactive deep tendon reflexes Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Exertional dyspnea Glomerulopathy Multiple cafe-au-lait spots Steatorrhea B-cell lymphoma Hypermelanotic macule Combined immunodeficiency Blepharitis Papilledema High pitched voice Chronic sinusitis Spinal cord compression Easy fatigability Lymphoproliferative disorder Premature arteriosclerosis Multiple lentigines Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Hypoplasia of the capital femoral epiphysis Abnormality of the metacarpal bones Arteriosclerosis Lower limb spasticity Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Congenital hip dislocation Precocious atherosclerosis Knee flexion contracture Long eyelashes Exotropia Mitral stenosis Short humerus Hypogonadism Hypoglycemia Anodontia Taurodontia Scaphocephaly Fibular hypoplasia Coloboma Leukemia Elevated serum creatinine Prominent occiput Short thorax Toe syndactyly Facial asymmetry Anal atresia Tachycardia Bruising susceptibility Agenesis of corpus callosum Hypospadias Microcornea Incisional hernia Abnormality of the wing of the ilium Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Renal magnesium wasting Cerebral atrophy Broad toe Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Hepatic cysts Slow-growing hair Iris coloboma Cupped ear Bullet-shaped phalanges of the hand Bipolar affective disorder Hypoplastic left heart Atrioventricular canal defect Partial agenesis of the corpus callosum Slender finger Natal tooth Transposition of the great arteries Wheezing Abnormal eyelash morphology Flat occiput Double outlet right ventricle Missing ribs Retinal dysplasia Omphalocele Eyelid coloboma Duodenal atresia Ectopic anus Aplasia/Hypoplasia of the eyebrow Hammertoe Intestinal malrotation Spina bifida Radial deviation of finger Growth hormone deficiency Eczema Pancytopenia Short thumb Sinusitis Leukodystrophy Multicystic kidney dysplasia Chorioretinal coloboma Holoprosencephaly Abnormal palate morphology Tachypnea Hyperextensible skin Hypoplasia of dental enamel Hand polydactyly Trigonocephaly Ectropion Broad long bone diaphyses Proximal tapering of metacarpals Spastic paraparesis Conical tooth Gingivitis Abnormality of the respiratory system Beaking of vertebral bodies Cerebellar atrophy Upper airway obstruction Hypoplastic ilia Angina pectoris Foam cells Abnormality of the skull Pulmonary edema Seborrheic dermatitis Constrictive median neuropathy Anemia Hypoplasia of teeth Abnormality of peripheral nerve conduction Rhinorrhea Abnormality of the clavicle Recurrent lower respiratory tract infections Delayed ossification of carpal bones Language impairment Coxa vara Aortic regurgitation Cerebral palsy Corneal dystrophy Hyperammonemia Recurrent upper respiratory tract infections Hemiplegia Stridor Abnormality of the elbow Flared metaphysis Coronary artery atherosclerosis Thoracic scoliosis Protruding tongue Short clavicles Hypoplasia of the odontoid process Shallow orbits Broad femoral neck Diaphyseal thickening Enlarged vertebral pedicles Hypoplastic cervical vertebrae Cervical kyphosis Abnormal CNS myelination Abnormality of the pubic bone Hypoplasia of the femoral head Calcification of falx cerebri C1-C2 subluxation Enlarged tonsils Cervical subluxation Thoracolumbar kyphoscoliosis Mandibular condyle hypoplasia Flaring of rib cage Broad ischia Abnormality of joint mobility Delayed tarsal ossification Thick skull base Deformed humerus Short mandibular rami Calvarial hyperostosis Recurrent ear infections Meckel diverticulum Retinal fold Chronic rhinitis Biconcave vertebral bodies Large face Sclerosis of skull base Difficulty standing Anterior open bite Narrow pelvis bone Cervical myelopathy Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Atlantoaxial dislocation Malformation of the hepatic ductal plate Enlargement of the wrists Abnormality of the middle ear ossicles Drumstick terminal phalanges



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