Cryptorchidism, and Myocardial infarction

Diseases related with Cryptorchidism and Myocardial infarction

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


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High match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

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 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

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High match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

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

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 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

Medium match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Medium 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

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Myocardial infarction

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability, mild Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Myocardial infarction. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Short stature Dilatation Scoliosis Chest pain Pain Growth delay Micropenis Sensorineural hearing impairment Abnormality of cardiovascular system morphology Neoplasm Abnormality of the kidney Hypertrophic cardiomyopathy Hemiparesis Strabismus Cleft palate Delayed puberty Delayed speech and language development Congestive heart failure Pulmonic stenosis Alopecia Ptosis Mitral regurgitation Pectus excavatum Posteriorly rotated ears Subvalvular aortic stenosis Cataract Short neck Hyperkeratosis Spina bifida occulta Muscular hypotonia Cafe-au-lait spot Abdominal pain Depressed nasal bridge Intrauterine growth retardation Arthralgia Triangular face Webbed neck Low-set, posteriorly rotated ears Thick vermilion border Arrhythmia Delayed skeletal maturation Pectus carinatum Cognitive impairment Diarrhea Low-set ears Constipation Multiple cafe-au-lait spots Aortic valve stenosis Hypotrichosis Sparse hair Glaucoma Clinodactyly of the 5th finger High forehead Malar flattening Downslanted palpebral fissures High palate Splenomegaly Micrognathia Irritability Erythema Renal insufficiency Scarring Protruding ear Abnormal heart morphology Depressivity Kyphosis Epicanthus Behavioral abnormality Dysarthria Multiple lentigines Hyperreflexia Abnormal mitral valve morphology Gait disturbance Abnormal aortic valve morphology Ataxia Generalized hypotonia Dental malocclusion Hypogonadotrophic hypogonadism Microcephaly Coarctation of aorta Wide nasal bridge Vesicoureteral reflux Malabsorption Stroke Osteopenia Nausea and vomiting Unilateral renal agenesis

Rare Symptoms - Less than 30% cases


Ventricular septal defect Thrombocytopenia Hypotelorism Gastroesophageal reflux Clinodactyly Amenorrhea Renal agenesis Agenesis of corpus callosum Abnormality of extrapyramidal motor function Hepatomegaly Oral cleft Proptosis Myopia Polyhydramnios Autism Cerebral cortical atrophy Flexion contracture Feeding difficulties Craniosynostosis Heart block Abnormal cardiac septum morphology Failure to thrive Obsessive-compulsive behavior Dehydration Cubitus valgus Feeding difficulties in infancy Open bite Primary amenorrhea Meningitis Vasculitis Umbilical hernia Coarse facial features Macrotia Nystagmus Paralysis Cleft upper lip Hypoplasia of the zygomatic bone Cerebral ischemia Abnormality of refraction Abnormal myocardium morphology Hypertonia Arnold-Chiari type I malformation Abnormality of the dentition Pleuritis Blindness Hypogonadism Orchitis Underdeveloped supraorbital ridges Rheumatoid arthritis Atrial septal defect Aplasia/Hypoplasia of the eyebrow Inflammation of the large intestine Radioulnar synostosis Frontal bossing Prominent nasal bridge Endocarditis Corneal opacity Purpura Cutis laxa Falls Kyphoscoliosis Pancreatitis Cleft lip Hemangioma Increased nuchal translucency Inguinal hernia Hernia Macrocephaly Long philtrum Short nose Premature birth Open mouth Sparse eyebrow Cerebellar hypoplasia Tetralogy of Fallot Mitral valve prolapse Abnormality of the genital system Hypothyroidism Subcutaneous nodule Scapular winging Melanoma Joint hypermobility Hyperextensible skin Diabetes mellitus Abnormality of the voice Bilateral cryptorchidism Bundle branch block Pericarditis Fever Confusion Nevus Headache Joint stiffness Failure to thrive in infancy Dyslexia Proteinuria Redundant skin Developmental regression Hypospadias Sleep disturbance Brachycephaly Intestinal malrotation Bicuspid aortic valve Mandibular prognathia Neonatal hypotonia Aortic regurgitation Full cheeks Nephrotic syndrome Joint hyperflexibility Patent ductus arteriosus Melanocytic nevus Hypertension Abnormality of the pulmonary artery Neurological speech impairment Chronic otitis media Fatigue Cardiomegaly Hyposmia Narrow forehead Encephalopathy Abnormality of the cardiovascular system Nephrocalcinosis Numerous nevi Hypoplasia of the ovary Lymphadenopathy Abnormal endocardium morphology Excessive wrinkled skin Cardiomyopathy Myalgia Pleural effusion Curly hair Genu valgum Premature skin wrinkling Fine hair Right ventricular hypertrophy Arthritis Intellectual disability, severe Abnormal facial shape Nocturia Abnormality of the gastric mucosa Abnormality of the bladder Thyroid hypoplasia Food intolerance Aplasia/Hypoplasia of the iris Synostosis of joints Renal artery stenosis Renovascular hypertension Obsessive-compulsive trait Coronary artery stenosis Renal duplication Tubulointerstitial abnormality Abnormality of the ankles Retinal arteriolar tortuosity Abnormal social behavior Colonic diverticula Aortic arch aneurysm Vascular tortuosity Hyperacusis Flat cornea Pelvic kidney Overriding aorta Infantile hypercalcemia Premature graying of hair Retinal vascular tortuosity Precocious puberty Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Dysphonia Hypercalciuria Cholelithiasis Hypercalcemia Portal hypertension Arnold-Chiari malformation Nephritis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Hallux valgus Reduced bone mineral density Schizophrenia Vertebral segmentation defect Increased bone mineral density Abnormal form of the vertebral bodies Involuntary movements Recurrent urinary tract infections Nephrolithiasis Amblyopia Gingival overgrowth Hoarse voice Narrow face Increased body weight Infantile muscular hypotonia Pointed chin Hemivertebrae Abnormality of dental enamel Abnormality of the fingernails Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Sacral dimple Ischemic stroke Impaired visuospatial constructive cognition Celiac disease Abnormal glucose tolerance Cystic renal dysplasia Villous atrophy Gait imbalance Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Peptic ulcer Abnormality of the cerebral vasculature Periorbital edema Rectal prolapse Arterial stenosis Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Enuresis Abnormality of the neck High hypermetropia Soft skin Prematurely aged appearance Facial cleft Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Nevus flammeus Poor coordination Large earlobe Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Chronic constipation Tubulointerstitial nephritis Supravalvular aortic stenosis Decreased circulating aldosterone level Calcification of the aorta Vertigo Retinopathy Autoimmunity Abnormal pyramidal sign Cough Papule Paresthesia Migraine Dyspnea Gastrointestinal hemorrhage Memory impairment Abnormal blistering of the skin Anorexia Cranial nerve paralysis Venous thrombosis Photophobia Reduced visual acuity Encephalitis Abnormal T-wave Hypoplasia of the uterus Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Anodontia Decreased serum testosterone level Decreased serum estradiol Abnormal spermatogenesis Weight loss Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Progressive alopecia Visual loss Increased intracranial pressure Acne Premature ovarian insufficiency Increased inflammatory response Immunologic hypersensitivity Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Iridocyclitis Iritis Thrombophlebitis Retrobulbar optic neuritis Superficial thrombophlebitis Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Erythema nodosum Oral ulcer Epiphora Uveitis Blurred vision Glomerulopathy Keratoconjunctivitis sicca Hemoptysis Pulmonary embolism Aseptic necrosis Pustule Alopecia areata Pulmonary infiltrates Gangrene Raynaud phenomenon Myositis Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Flat occiput Hyperlipidemia Unilateral renal hypoplasia Asthma Hepatosplenomegaly Skin rash Stage 5 chronic kidney disease Nausea Nephropathy Ascites Osteoarthritis Anemia Chronic kidney disease Systemic lupus erythematosus Intestinal obstruction Leukocytosis Hyperkalemia Elevated erythrocyte sedimentation rate Acidosis Atrophy/Degeneration involving the corticospinal tracts Episodic fever Bilateral vocal cord paralysis Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Thyroid hemiagenesis Vocal cord dysfunction Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Amyloidosis Increased serum ferritin Hypergonadotropic hypogonadism Polyneuropathy Babinski sign Mental deterioration Camptodactyly Arthrogryposis multiplex congenita Abnormality of movement Sensory neuropathy Prominent nose Dystonia Decreased testicular size Bilateral sensorineural hearing impairment Psychosis Sparse scalp hair Choreoathetosis Hallucinations Abnormality of metabolism/homeostasis Peripheral neuropathy Gout Thick lower lip vermilion Antinuclear antibody positivity Edema of the lower limbs Acute hepatic failure Oral leukoplakia Anemia of inadequate production Peritonitis Synovitis Recurrent meningitis Stiff neck Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Recurrent otitis media Submucous cleft hard palate Small nail Short femoral neck Long penis Patellar aplasia Abnormality of the upper limb Fair hair Low hanging columella Capillary hemangioma Upper limb undergrowth Severe intrauterine growth retardation External ear malformation Synostosis of carpal bones Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Radial deviation of finger Humeroradial synostosis Bilateral single transverse palmar creases Postnatal growth retardation Finger syndactyly Underdeveloped nasal alae Blue sclerae Bowing of the long bones Short thumb Knee flexion contracture Proximal placement of thumb Wormian bones Opacification of the corneal stroma Sandal gap Hypoplasia of the radius Polycystic kidney dysplasia Clitoral hypertrophy Phocomelia Wrist flexion contracture Microphthalmia Prominent forehead Astigmatism Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Pruritus Leukemia Respiratory tract infection Abnormality of the eye Telecanthus Aggressive behavior Hydronephrosis EEG abnormality Hyperhidrosis Cerebral atrophy Aplasia of the ulna Midface capillary hemangioma Complete duplication of thumb phalanx Facial hemangioma Absent earlobe Progressive flexion contractures Mesomelic arm shortening Tetraphocomelia Premature separation of centromeric heterochromatin Vomiting Optic atrophy Dysphagia Ventriculomegaly Anteverted nares Hydrocephalus Edema Retrognathia Brachydactyly Ichthyosis Recurrent infections Widow's peak Enlarged cisterna magna Shawl scrotum Cortical dysplasia Emphysema Abnormality of neuronal migration Abnormality of the coagulation cascade Aortic aneurysm Patent foramen ovale Lissencephaly Heterotopia Generalized-onset seizure Focal-onset seizure Skeletal dysplasia Syndactyly Subependymal nodules Anosmia Abnormality of the nervous system Coloboma Iris coloboma Choanal atresia Gynecomastia Holoprosencephaly Reduced number of teeth Bimanual synkinesia Hypopituitarism Ectrodactyly Thromboembolism Gonadotropin deficiency Prostate cancer Microphallus Congenital nephrotic syndrome Specific learning disability Aplasia of the ovary Severe hearing impairment Conductive hearing impairment Syncope Overgrowth Depressed nasal ridge Mutism Pterygium Missing ribs Abnormality of the skeletal system Angina pectoris Limited elbow movement Parietal bossing Delayed menarche Third degree atrioventricular block Coronary artery aneurysm Respiratory insufficiency Abnormal pulmonary valve morphology Abnormality of the face Freckling Left ventricular hypertrophy Myelodysplasia External genital hypoplasia Abnormality of the ear Decreased fertility Atrioventricular canal defect Neuroblastoma Abnormal localization of kidney Severe sensorineural hearing impairment Sprengel anomaly Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Shield chest Dry skin Peripheral axonal neuropathy Renal hypoplasia Hyperkeratosis pilaris Tremor Visual impairment Spasticity Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Tongue thrusting Myopathy Anterior creases of earlobe Thickened helices Hyperextensibility of the finger joints Abnormality of hair texture Cavernous hemangioma Sparse or absent eyelashes Frontal balding Abnormality of the optic disc Functional abnormality of the gastrointestinal tract Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Respiratory distress Midface retrusion Gastrointestinal dysmotility Smooth philtrum Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Hypoplasia of penis Microdontia Otitis media Esotropia Sudden cardiac death Macroglossia Broad nasal tip Hypodontia Postural instability Everted lower lip vermilion Dysmetria Carious teeth Absent speech Joint laxity Obesity Elevated serum creatine phosphokinase Recurrent respiratory infections Osteoporosis Pes planus Anxiety Intellectual disability, moderate Small for gestational age Hyperlordosis Autistic behavior Wide mouth Blepharophimosis Attention deficit hyperactivity disorder Broad forehead Slow-growing hair Deep palmar crease Abnormality of skin pigmentation Hyperpigmentation of the skin Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Lymphedema Poor suck Palmoplantar keratoderma Long face Bulbous nose Bruising susceptibility Retinal dystrophy Hepatic steatosis High, narrow palate Abdominal distention Thickened skin Abnormal bleeding Growth hormone deficiency Progressive visual loss Low posterior hairline Inflammatory abnormality of the skin Decreased body weight Relative macrocephaly Deep philtrum Delayed CNS myelination Abnormality of the gastrointestinal tract Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Enlarged kidney Absent eyelashes Abnormality of the ulna Short attention span Anal stenosis Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Poor appetite Generalized hyperpigmentation Brittle hair Malnutrition Bilateral ptosis Scaling skin Ectropion Heart murmur Absent eyebrow Large for gestational age Hydroureter Biparietal narrowing Neurodevelopmental delay Neurofibromas Infantile spasms Abnormality of the sternum Long palpebral fissure Abnormal heart valve morphology Hypopyon



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