Depressed nasal bridge, and Myocardial infarction

Diseases related with Depressed nasal bridge and Myocardial infarction

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Myocardial infarction that can help you solving undiagnosed cases.


Top matches:

High match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

High match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

High 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

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Other less relevant matches:

High 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

High match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

High match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

High match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match PRIMARY FAMILIAL POLYCYTHEMIA


Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

PRIMARY FAMILIAL POLYCYTHEMIA Is also known as polycythemia, primary familial and congenital|primary familial and congenital polycythemia|familial erythrocytosis|erythrocytosis, autosomal dominant benign|pfcp|congenital polycythemia due to erythropoietin receptor mutation|congenital erythrocytosis due

Related symptoms:

  • Pain
  • Hypertension
  • Fatigue
  • Respiratory distress
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY FAMILIAL POLYCYTHEMIA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Myocardial infarction

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Myocardial infarction. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Thick vermilion border Stroke Intellectual disability, mild Hypertrophic cardiomyopathy Cognitive impairment Cryptorchidism Growth delay Sensorineural hearing impairment Muscular hypotonia Flexion contracture Dyspnea Abdominal pain Kyphosis Depressivity Corneal opacity Mitral regurgitation Abnormality of the cardiovascular system Abnormality of the kidney Behavioral abnormality Hypertension Generalized hypotonia Constipation Cardiomyopathy Abnormal aortic valve morphology Coarse facial features Ptosis Delayed speech and language development Feeding difficulties Short neck Dilatation High palate Cataract Pectus excavatum Arrhythmia Posteriorly rotated ears Micrognathia Abnormal mitral valve morphology Pain Proptosis Umbilical hernia Clinodactyly of the 5th finger High forehead Osteopenia Vomiting Inguinal hernia Hernia Malar flattening Long philtrum Splenomegaly Abnormality of the dentition Pruritus Edema Frontal bossing Sparse hair Headache Hypotrichosis Craniosynostosis Chest pain Sudden cardiac death Arthralgia Hypothyroidism Micropenis Midface retrusion Gait disturbance Microcephaly Vertigo Prominent nasal bridge Large earlobe Progressive hearing impairment Aortic regurgitation Joint stiffness Genu valgum Macrocephaly Diarrhea Respiratory insufficiency Abnormal facial shape Subvalvular aortic stenosis Abnormal heart valve morphology Heart murmur Hemiparesis Cardiomegaly Dental malocclusion Full cheeks Sleep disturbance Falls Downslanted palpebral fissures Glaucoma Dysarthria Abnormal endocardium morphology Left ventricular hypertrophy Mitral valve prolapse Delayed puberty Pectus carinatum Low-set, posteriorly rotated ears Hyperkeratosis Delayed skeletal maturation Abnormality of cardiovascular system morphology Intrauterine growth retardation Pulmonic stenosis Strabismus

Rare Symptoms - Less than 30% cases


Radioulnar synostosis Microdontia Wide mouth Tetralogy of Fallot Myalgia Fatigue Webbed neck Carious teeth Thick eyebrow Everted lower lip vermilion Macroglossia Broad nasal tip Recurrent otitis media Mental deterioration Nevus Abnormal form of the vertebral bodies Myopia Gingival overgrowth Elbow flexion contracture Abnormality of dental enamel Opacification of the corneal stroma Triangular face Widely spaced teeth Joint hyperflexibility Corneal dystrophy Prominent supraorbital ridges Vocal cord paralysis Cough Hemiplegia Hyperextensible skin Abnormality of the voice Obsessive-compulsive behavior Open bite Aplasia/Hypoplasia of the eyebrow Underdeveloped supraorbital ridges Arnold-Chiari type I malformation Hypoplasia of the zygomatic bone Abnormality of the gastrointestinal tract Abnormal myocardium morphology Abnormality of refraction Gastrointestinal dysmotility Increased nuchal translucency Skeletal dysplasia Functional abnormality of the gastrointestinal tract Melanoma Spina bifida occulta Scapular winging Skeletal muscle atrophy Cafe-au-lait spot Tubulointerstitial nephritis Subcutaneous nodule Recurrent respiratory infections Pes cavus Periorbital fullness Kyphoscoliosis Back pain Toe walking Reduced bone mineral density Malabsorption Diabetes mellitus Vascular tortuosity Loss of consciousness Anxiety Proteinuria Developmental regression Hyperlordosis Protruding ear Emphysema Paralysis Nausea and vomiting Nephrotic syndrome Elevated serum creatine phosphokinase Polyuria Low-set ears Coronary artery stenosis Dehydration Abnormality of extrapyramidal motor function Ventricular hypertrophy Thick lower lip vermilion Aortic valve stenosis Hypogonadotrophic hypogonadism Bicuspid aortic valve Ischemic stroke Cerebellar hypoplasia Patent ductus arteriosus Coronary artery atherosclerosis Bradycardia Abnormality of lipid metabolism Hyperlipidemia Purpura Angina pectoris Sparse eyebrow Peripheral neuropathy Supraventricular arrhythmia Heart block Atrioventricular block Ventricular arrhythmia Knee flexion contracture Palpitations Obesity Atrial fibrillation Syncope Retinal vascular tortuosity Neonatal hypotonia Cleft palate Mandibular prognathia Hyperreflexia Celiac disease Respiratory distress Myopathy Renal insufficiency Brachycephaly Chronic otitis media Dyslexia Failure to thrive in infancy Feeding difficulties in infancy Open mouth Decreased body weight Thickened skin Multiple lentigines Short nose Lymphedema Bulbous nose Joint hypermobility Abnormality of skin pigmentation Hypertonia Melanocytic nevus Irritability Ichthyosis Ataxia Dry skin Cerebral cortical atrophy Nystagmus Curly hair Scarring Abnormal cardiac septum morphology Intellectual disability, severe Excessive wrinkled skin Fine hair Neoplasm Abdominal distention Hyperhidrosis Prominent forehead Autism Vesicoureteral reflux Alopecia Intestinal malrotation Polyhydramnios Right ventricular hypertrophy Premature birth Gastroesophageal reflux Macrotia Thrombocytopenia Abnormal heart morphology Encephalopathy Premature skin wrinkling Abnormality of the pulmonary artery Sprengel anomaly Progressive visual loss Bundle branch block Narrow forehead High, narrow palate Coarctation of aorta Cutis laxa Abnormal bleeding Anteverted nares Abnormality of the cerebral white matter Leukemia Neurological speech impairment Failure to thrive Atrial septal defect Dolichocephaly Optic atrophy Sleep apnea Redundant skin Hemangioma Hepatomegaly Hydrocephalus Multiple cafe-au-lait spots Ventricular septal defect Epicanthus Rigidity Difficulty walking Shoulder girdle muscle atrophy Abnormal atrioventricular conduction Abnormal glomerular filtration rate Increased LDL cholesterol concentration Atrial arrhythmia Abnormality of glycosphingolipid metabolism Muscle weakness Limb-girdle muscle atrophy Peroneal muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Left anterior fascicular block Peroneal muscle weakness Ventricular escape rhythm Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Subependymal nodules Type 1 muscle fiber atrophy Abnormality of the common coagulation pathway Proximal spinal muscular atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Absent muscle fiber emerin Impaired renal concentrating ability Congenital muscular dystrophy ST segment depression Reduced tendon reflexes Concentric hypertrophic cardiomyopathy Frequent falls Progressive muscle weakness Rimmed vacuoles Spinal rigidity Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Hypertriglyceridemia Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Lipodystrophy Limb-girdle muscular dystrophy Spinal muscular atrophy Ankle contracture Waddling gait Proximal muscle weakness in lower limbs Unexplained fevers Distal lower limb muscle weakness Myotonia Achilles tendon contracture Proximal muscle weakness Facial palsy Muscular dystrophy Shoulder girdle muscle weakness Progressive proximal muscle weakness Dilated cardiomyopathy Limb muscle weakness Lower limb muscle weakness Distal lower limb amyotrophy Mucosal telangiectasiae Limb-girdle muscle weakness Proximal amyotrophy Shortened PR interval Abnormality of neuronal migration Congenital nephrotic syndrome Retinal arteriolar tortuosity Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Hyperacusis Tortuosity of conjunctival vessels Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Abnormality of the ankles Colonic diverticula Calcification of the aorta Rectal prolapse Decreased plasma carnitine Peripheral pulmonary artery stenosis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Arterial stenosis Renal duplication Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Left ventricular septal hypertrophy Thyroid hypoplasia Aplasia/Hypoplasia of the iris Impaired visuospatial constructive cognition Hyperkeratotic papule Increased red blood cell mass Abnormality of the coagulation cascade Confusion Focal-onset seizure Generalized-onset seizure Heterotopia Lissencephaly Abnormality of the forehead Patent foramen ovale Aortic aneurysm Dystonia Recurrent infections Abnormal common carotid artery morphology Abnormal ST segment Cortical dysplasia Shawl scrotum Enlarged cisterna magna Increased carotid artery intimal medial thickness Increased glomerular filtration rate Widow's peak Agenesis of corpus callosum Acroparesthesia Unilateral renal hypoplasia Nystagmus-induced head nodding Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Overfriendliness Syndactyly Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Tenesmus Descending aorta hypoplasia Vocal cord dysfunction Heavy proteinuria Atrophy/Degeneration involving the corticospinal tracts Cornea verticillata Primary amenorrhea Abnormality of metabolism/homeostasis Abnormal intestine morphology Anorexia Hypohidrosis Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Biventricular hypertrophy Aminoaciduria Ventricular tachycardia Tinnitus Hypotension Easy fatigability Chronic kidney disease Abnormality of the hand Glomerulosclerosis Polydipsia Personality changes Clubbing Impaired vibratory sensation Tricuspid regurgitation Abnormal lung morphology Urinary incontinence Primary hypothyroidism Stage 5 chronic kidney disease Arthritis Decreased glomerular filtration rate Abnormality of the nervous system Skin rash Papule Nephrogenic diabetes insipidus Increased hematocrit Increased hemoglobin Paresthesia Abnormality of temperature regulation Muscle cramps Limb pain Nausea Corneal crystals Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Tachycardia Hematuria Nephropathy Diabetes insipidus Anhidrosis Carcinoma Myocardial fibrosis Heat intolerance Abnormal hemoglobin Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Chronic obstructive pulmonary disease Achalasia Abnormal thrombosis Sinus bradycardia Tubulointerstitial fibrosis Oligospermia Chronic fatigue Abnormality of femur morphology Chronic pain Abnormal renal physiology Abnormality of the nose Restrictive cardiomyopathy High-frequency hearing impairment Asymmetric septal hypertrophy Miosis Supraventricular tachycardia Tubular atrophy Impotence Wheezing Microalbuminuria Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Progressive sensorineural hearing impairment Orthostatic hypotension Telangiectasia of the skin Glomerulopathy Glycosuria Renal tubular acidosis Conjunctival telangiectasia Abnormality of the renal tubule Aortic root aneurysm Dysesthesia Abnormal EKG Xerostomia Abnormal cornea morphology Transient ischemic attack Renal tubular dysfunction Edema of the lower limbs Elevated serum creatinine Thromboembolism Fever Babinski sign Progressive alopecia Decreased serum testosterone level Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Brachydactyly Insulin-resistant diabetes mellitus Microphthalmia Clinodactyly Retrognathia Postnatal growth retardation Finger syndactyly Cleft upper lip Underdeveloped nasal alae Epistaxis Blue sclerae Anodontia Autoimmune thrombocytopenia Short thumb Amenorrhea Hypogonadism Camptodactyly Decreased lacrimation Arthrogryposis multiplex congenita Abnormality of movement Sensory neuropathy Polyneuropathy Prominent nose Decreased testicular size Bilateral sensorineural hearing impairment Hypoplasia of the uterus Psychosis T-wave inversion Sparse scalp hair Choreoathetosis Hallucinations Hypergonadotropic hypogonadism Angiokeratoma corporis diffusum Premature ovarian insufficiency Flat occiput Bowing of the long bones Shortened QT interval Plethora Complete duplication of thumb phalanx Fair hair Abnormality of the upper limb Patellar aplasia Long penis Phocomelia Humeroradial synostosis Wrist flexion contracture Aplasia of the ulna Exertional dyspnea Facial hemangioma Capillary hemangioma Absent earlobe Progressive flexion contractures Mesomelic arm shortening Tetraphocomelia Midface capillary hemangioma Premature separation of centromeric heterochromatin Polycythemia Anemia Distal renal tubular acidosis Low hanging columella Upper limb undergrowth Bilateral single transverse palmar creases Obstructive lung disease Wormian bones Hyposthenuria Sandal gap Hypoplasia of the radius Polycystic kidney dysplasia Impaired temperature sensation Clitoral hypertrophy Venous thrombosis Proximal placement of thumb Radial deviation of finger Increased blood urea nitrogen Short femoral neck Absent thumb Angiokeratoma Aplasia/Hypoplasia of the thumb Hip contracture Reduced sperm motility Absent radius Synostosis of carpal bones Severe intrauterine growth retardation Cerebral hemorrhage External ear malformation Abnormal mandible coronoid process morphology Gait imbalance Oral aversion Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Abnormality of the skeletal system Abnormality of the hairline Visual loss Pneumonia Hepatosplenomegaly Elevated hepatic transaminase Conductive hearing impairment Apnea Pallor Retinopathy Camptodactyly of finger Abnormal location of ears Hyperkeratosis pilaris Nyctalopia Sparse or absent eyelashes Abnormality of the testis Delayed CNS myelination Deep palmar crease Slow-growing hair Thickened helices Hyperextensibility of the finger joints Abnormality of hair texture Cavernous hemangioma Endocarditis Tongue thrusting Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Abnormal pyramidal sign Severe global developmental delay Dystrophic fingernails Language impairment Generalized hirsutism Coxa valga Spastic paraparesis Coxa vara Cerebral palsy Hyperammonemia Increased intracranial pressure Recurrent upper respiratory tract infections Stridor Exotropia Metatarsus adductus Multiple joint contractures Flared metaphysis Restrictive ventilatory defect Thickened calvaria Arthropathy Spinal canal stenosis Rhinitis Thoracic scoliosis Abnormal vertebral morphology Abnormality of epiphysis morphology Synophrys Abnormality of the skin Abnormality of eye movement Retinal degeneration Hirsutism Wide nose Inability to walk Neurodegeneration Delayed eruption of teeth Asthma Limitation of joint mobility Hip dysplasia Long eyelashes Abnormality of the ribs Lumbar hyperlordosis Intellectual disability, profound Interphalangeal joint contracture of finger Progressive neurologic deterioration Hypertrichosis Split hand Encephalocele Chronic diarrhea Abnormality of the optic nerve Abnormal hair pattern Short clavicles Erythema Blindness Cerebral atrophy EEG abnormality Hydronephrosis Aggressive behavior Telecanthus Abnormality of the eye Respiratory tract infection Nail dystrophy Dysphagia Hypermetropia Astigmatism Peripheral axonal neuropathy Long face Bruising susceptibility Retinal dystrophy Hepatic steatosis Palmoplantar keratoderma Growth hormone deficiency Ventriculomegaly Numerous nevi Inflammatory abnormality of the skin Decreased fertility Hypospadias Specific learning disability Abnormality of the genital system Abnormality of the face Myelodysplasia Bilateral cryptorchidism External genital hypoplasia Abnormality of the ear Atrioventricular canal defect Hypoplasia of the ovary Freckling Neuroblastoma Severe sensorineural hearing impairment Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Shield chest Abnormal localization of kidney Abnormal pulmonary valve morphology Low posterior hairline Hyperpigmentation of the skin Thick upper lip vermilion Submucous cleft hard palate Hydroureter Neurodevelopmental delay Neurofibromas Infantile spasms Abnormality of the sternum Long palpebral fissure Biparietal narrowing Generalized hyperpigmentation Anal stenosis Large for gestational age Poor appetite Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Enlarged kidney Absent eyelashes Abnormality of the ulna Short attention span Woolly hair Malnutrition Absent eyebrow Cerebral visual impairment Optic nerve hypoplasia Aspiration Abnormality of the nail Narrow palate Sparse eyelashes Oculomotor apraxia Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Delayed gross motor development Palmoplantar hyperkeratosis Cubitus valgus Abnormality of vision Relative macrocephaly Poor suck Deep philtrum Brittle hair Bilateral ptosis Scaling skin Pleural effusion Ectropion Protruding tongue Hypoplasia of the odontoid process Cerebral ischemia Small nail Esotropia Otitis media Renal agenesis Hypotelorism Hypoplasia of penis Hypsarrhythmia Type II diabetes mellitus Renal hypoplasia Involuntary movements Postural instability Recurrent urinary tract infections Nephrolithiasis Amblyopia Hoarse voice Narrow face Increased bone mineral density Increased body weight Pointed chin Hemivertebrae Hypodontia Oral cleft Abnormality of the fingernails Osteoporosis Stiff interphalangeal joints Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Spasticity Visual impairment Tremor Absent speech Pes planus Dysmetria Joint laxity Cleft lip Intellectual disability, moderate Autistic behavior Blepharophimosis Attention deficit hyperactivity disorder Broad forehead Small for gestational age Smooth philtrum Nephrocalcinosis Abnormal dermatoglyphics Abnormality of glycosaminoglycan metabolism Pulmonary artery stenosis Facial cleft Restlessness Insomnia Megalocornea Posterior embryotoxon Nevus flammeus Soft skin Poor coordination Abnormality of the vasculature High hypermetropia Patellar dislocation Multiple renal cysts Down-sloping shoulders Blue irides Chronic constipation Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Villous atrophy Prematurely aged appearance Vertebral segmentation defect Sacral dimple Cholelithiasis Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Dysphonia Hypercalciuria Hypercalcemia Premature graying of hair Precocious puberty Portal hypertension Nephritis Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Hallux valgus Abnormality of the tympanic membrane Increased size of nasopharyngeal adenoids Palpebral edema Delayed ossification of carpal bones Endocardial fibroelastosis Constrictive median neuropathy Hypoplasia of teeth Sagittal craniosynostosis Myelopathy Abnormality of peripheral nerve conduction Rhinorrhea Broad femoral neck Diaphyseal thickening Pulmonary edema Abnormal diaphysis morphology Recurrent ear infections Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Difficulty standing Seborrheic dermatitis Foam cells Anterior open bite Gingivitis Protuberant abdomen Peripheral visual field loss Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Abnormality of the skull Abnormality of the clavicle Diastasis recti Flared iliac wings Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Conical tooth Cor pulmonale Abnormal nerve conduction velocity Meckel diverticulum Abnormality of the wing of the ilium Abnormality of lysosomal metabolism Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Flaring of rib cage Abnormality of mucopolysaccharide metabolism Broad ischia Abnormality of joint mobility 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 Abnormality of the pubic bone Dermatan sulfate excretion in urine Narrow pelvis bone Abnormal hand morphology Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Atlantoaxial dislocation Hip subluxation Heparan sulfate excretion in urine Enlargement of the wrists Lumbar kyphosis Abnormality of the middle ear ossicles Cervical myelopathy Calvarial hyperostosis Thoracolumbar kyphoscoliosis Hernia of the abdominal wall Urinary glycosaminoglycan excretion Short mandibular rami Cervical kyphosis Abnormal CNS myelination Peripheral thrombosis



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