Carcinoma, and Delayed puberty

Diseases related with Carcinoma and Delayed puberty

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


Top matches:

High match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

High match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

High match CYSTIC FIBROSIS


Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

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Other less relevant matches:

High match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

High match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

High match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

High 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

High match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Delayed puberty

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Osteopenia Seizures Elevated hepatic transaminase Diarrhea Failure to thrive Congestive heart failure Recurrent infections Hepatocellular carcinoma Cognitive impairment Recurrent respiratory infections Renal insufficiency Dilatation Cataract Hypertriglyceridemia Intellectual disability Hepatomegaly Cardiomyopathy Abnormality of the liver Heart murmur Osteoporosis Immunodeficiency Malabsorption Pain Malnutrition Diabetes mellitus Delayed skeletal maturation Bronchiectasis Hearing impairment Hypertrophic cardiomyopathy Lymphedema Stroke Coarse facial features Abnormality of the skeletal system Abnormal facial shape Micrognathia Telangiectasia of the skin Portal hypertension Scoliosis Renal tubular acidosis Glomerulosclerosis Hyperlipidemia Hematuria Hepatitis Global developmental delay Pruritus Strabismus Scarring Flexion contracture Pancreatitis Vomiting Edema

Rare Symptoms - Less than 30% cases


Eczema Hepatosplenomegaly Sensorineural hearing impairment Macrotia Sepsis Hypoalbuminemia Purpura Lymphopenia Pneumonia Abnormal intestine morphology Anxiety Conductive hearing impairment Abnormality of the kidney Decreased body weight Skeletal muscle atrophy Tremor Hypothyroidism Respiratory insufficiency Prominent forehead Obstructive lung disease Frontal bossing Irritability Pneumothorax Ventricular septal defect Dilated cardiomyopathy Chronic pancreatitis Proptosis Apraxia Dilatation of the cerebral artery Atrial septal defect Intellectual disability, mild Dyspnea Hyperkeratosis Hyperhidrosis Posteriorly rotated ears Arrhythmia Midface retrusion Dysarthria Concentric hypertrophic cardiomyopathy Peripheral neuropathy Chronic kidney disease Decreased glomerular filtration rate Corneal dystrophy Full cheeks Hypercholesterolemia Hypermetropia Atherosclerosis Microalbuminuria Macrocephaly Hepatic failure Pointed chin Abnormality of the dentition Short nose Cholestasis Sparse hair Nephrotic syndrome Fasting hypoglycemia Nephropathy Proteinuria Cafe-au-lait spot Stage 5 chronic kidney disease Generalized osteoporosis Enterocolitis Pulmonic stenosis Primary hypothyroidism Nystagmus Peripheral arterial stenosis Renal artery stenosis Growth hormone deficiency Arthritis Keratoconus Hypodontia Distal renal tubular acidosis Muscular hypotonia Chronic hepatitis Myopathy Acidosis Hypoglycemia Downslanted palpebral fissures Abnormality of the nervous system Chronic obstructive pulmonary disease Hypertelorism Relative macrocephaly Hypohidrosis Acanthosis nigricans Visual loss Left ventricular hypertrophy Dysphagia Myocardial infarction Premature graying of hair Atrial fibrillation Thick lower lip vermilion Abdominal pain Respiratory failure Gastroesophageal reflux Respiratory tract infection Angina pectoris Aminoaciduria Infertility Hypoplasia of dental enamel Narrow mouth Carious teeth Abnormality of the testis Alopecia Nail dysplasia Conjunctival telangiectasia Fragile nails Large earlobe Tricuspid regurgitation Dermal atrophy Constipation Abnormal EKG Transient ischemic attack Lack of skin elasticity Mucosal telangiectasiae Cough Hepatic steatosis Hypogonadism Wheezing Asymmetric septal hypertrophy Cryptorchidism Nephrocalcinosis Intrahepatic cholestasis Clubbing Chest pain Recurrent pneumonia Emphysema Sinusitis Abnormal mitral valve morphology Insulin resistance Thick vermilion border Myopia Depressed nasal bridge Hypercalciuria Exocrine pancreatic insufficiency Abnormal vertebral morphology Nausea Cirrhosis Mitral valve prolapse Abdominal distention Abnormality of the hair Abnormality of the cardiovascular system Decreased antibody level in blood Tachycardia Thin nail Abnormal lung morphology Hypotrichosis Lipoatrophy Hip dislocation Exertional dyspnea Prolonged QT interval High pitched voice Abnormality of the thorax Narrow chest Thin ribs Multiple joint contractures Scleroderma Microtia Sparse and thin eyebrow Metaphyseal widening Lymphangiectasis Dental crowding Alveolar rhabdomyosarcoma Broad-based gait Thin skin Thickened Achilles tendon Aortic valve stenosis Coxa valga Osteolysis Osteoarthritis Aspiration Cardiomegaly Increased bone mineral density Premature ovarian insufficiency Hypergonadotropic hypogonadism Cyanosis Hypogonadotrophic hypogonadism Convex nasal ridge Nasal speech Limitation of joint mobility Delayed eruption of teeth Intracranial hemorrhage Congenital neuroblastoma Lipodystrophy Hyperinsulinemia Thin vermilion border Unexplained fevers Joint stiffness Gastrointestinal dysmotility Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy Abnormal myocardium morphology High-frequency hearing impairment Periorbital fullness Abnormal aortic valve morphology Achalasia T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Sinus bradycardia Clubbing of fingers Supraventricular arrhythmia Xerostomia Progressive sensorineural hearing impairment Orthostatic hypotension Celiac disease Glomerulopathy Abnormal heart valve morphology Glycosuria Aortic root aneurysm Abnormality of lipid metabolism Renal tubular dysfunction Reduced ejection fraction Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Supraventricular tachycardia Heat intolerance Dysesthesia Biventricular hypertrophy Dementia Abnormal common carotid artery morphology Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Acroparesthesia Abnormal ST segment Functional abnormality of the gastrointestinal tract Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Systolic heart murmur Kyphosis Malar flattening Impaired renal concentrating ability ST segment depression Abnormal endocardium morphology Vascular tortuosity Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Increased blood urea nitrogen Hypoplastic nipples Reduced sperm motility Angiokeratoma Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Keratoconjunctivitis sicca Prominent scalp veins Renal cell carcinoma Neurodevelopmental delay Redundant skin Failure to thrive in infancy Aortic aneurysm Pleural effusion Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Large for gestational age Reduced subcutaneous adipose tissue Multifocal atrial tachycardia Curly hair Neuroblastoma Rhabdomyolysis Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Pyloric stenosis Neonatal sepsis Soft skin Abnormality of dental enamel Hip dysplasia Overgrowth Epidermal acanthosis Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Hydrops fetalis Hoarse voice Narrow palate Short chin Choroid plexus papilloma Abnormality of the fingernails Cutis laxa Abnormal dermatoglyphics Infantile muscular hypotonia Hemangioma Arnold-Chiari malformation Laryngomalacia Poor suck Bladder carcinoma Hyperextensible skin Neonatal hypoglycemia Obstructive sleep apnea Webbed neck Large face Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Fetal distress Bronchomalacia Papilloma Deep plantar creases Hypoplasia of teeth Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Concave nail Broad philtrum Severe postnatal growth retardation Deep-set nails Microscopic hematuria Thickened nuchal skin fold Megalencephaly Barrel-shaped chest Progeroid facial appearance Embryonal rhabdomyosarcoma Woolly hair Thick upper lip vermilion Achilles tendon contracture Vestibular Schwannoma Deep palmar crease Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Hypopnea Large forehead Shyness Verrucae Central apnea Redundant neck skin Labial hypoplasia Abnormality of the skin Premature birth Short clavicles Craniofacial disproportion Corneal arcus Intermittent claudication Widely patent fontanelles and sutures Parietal bossing Mitral valve calcification Bird-like facies Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Bilateral coxa valga Decreased testosterone in males Narrow nasal tip Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Generalized hypotonia Ptosis Sinus tachycardia Premature coronary artery atherosclerosis High palate Aplasia/Hypoplasia of the earlobes Alopecia of scalp Thrombocytosis Absent eyelashes Down-sloping shoulders Hyperphosphatemia Ovoid vertebral bodies Osteolytic defects of the phalanges of the hand Prominent superficial veins Small face Precocious atherosclerosis Absence of subcutaneous fat Enlarged joints Tendon rupture Thin bony cortex Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Arteriosclerosis Narrow nasal ridge Aplastic clavicle Hip pain Low-set ears Feeding difficulties Nevus Loose anagen hair Low-set, posteriorly rotated ears Enlarged cerebellum Apnea Feeding difficulties in infancy Macrocephaly at birth Postnatal growth retardation Wide mouth Pectus carinatum Arthrogryposis multiplex congenita Joint hyperflexibility Joint laxity Cardiomyocyte hypertrophy Astigmatism Joint hypermobility Wide nose High, narrow palate Sleep disturbance Postural instability Ascites Tetraplegia Macroglossia Intellectual disability, moderate Kyphoscoliosis Delayed speech and language development Hydrocephalus Motor delay Elevated erythrocyte sedimentation rate Epicanthus Vitreomacular adhesion Talipes equinovarus Myofiber disarray Ventriculomegaly Anteverted nares Short neck Long philtrum Polyhydramnios Cerebral atrophy Abnormality of cardiovascular system morphology Absent speech Hernia Pectus excavatum Abnormal heart morphology Inguinal hernia Pes cavus Severe short stature Cerebral cortical atrophy Interstitial pulmonary abnormality Abnormal anterior chamber morphology Coronary artery atherosclerosis Esophageal carcinoma Renovascular hypertension Autoimmune neutropenia Functional abnormality of the bladder Carotid artery dilatation Recurrent Aspergillus infections Susceptibility to herpesvirus Oropharyngeal squamous cell carcinoma Medial calcification of large arteries B lymphocytopenia Abnormal serum interferon-gamma level Lactic acidosis Metabolic acidosis Abnormal bleeding Epistaxis Nephrolithiasis Venous thrombosis Elevated alkaline phosphatase Antiphospholipid antibody positivity Decrease in T cell count Decreased muscle mass Patent foramen ovale Autoimmunity Hemolytic anemia Pulmonary arterial hypertension Inflammatory abnormality of the skin Type I diabetes mellitus Leukoencephalopathy Recurrent upper respiratory tract infections Encephalitis Inflammation of the large intestine Immune dysregulation Autoimmune hemolytic anemia Thyroiditis Autoimmune thrombocytopenia Pulmonary embolism Hashimoto thyroiditis Abnormality of the endocrine system Chronic mucocutaneous candidiasis Villous atrophy Focal segmental glomerulosclerosis Prolonged bleeding time Microscopic nephrocalcinosis Abnormality of movement Dystonia Myoclonus Gait ataxia Difficulty walking Distal muscle weakness Leukemia Neurological speech impairment Abnormality of eye movement Unsteady gait Gait disturbance Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Chorea Lymphoma Type II diabetes mellitus Pancytopenia Cerebellar atrophy Spasticity Hyperuricemia Hypoglycemic seizures Protuberant abdomen Enlarged kidney Gout Xanthomatosis Neoplasm of the liver Breathing dysregulation Skeletal myopathy Pyelonephritis Xanthelasma Muscle weakness Intermittent diarrhea Hepatoblastoma Lipemia retinalis Doll-like facies Hepatocellular adenoma Hypocitraturia Microcephaly Ataxia Thrombocytopenia Echogenic fetal bowel Choreoathetosis Neoplasm of the skin Hypoargininemia Syndactyly Nail dystrophy Toe syndactyly Progressive visual loss Abnormal blistering of the skin Joint contracture of the hand Conjunctivitis Ectropion Delirium Squamous cell carcinoma Milia Atrophic scars Skin vesicle Fragile skin Blepharitis Atypical scarring of skin Corneal erosion Delayed menarche Mania Ankyloglossia Decreased liver function Obesity Hyperactivity Aggressive behavior Lethargy Confusion Coma Memory impairment Psychosis Hallucinations Cerebral edema Hepatic fibrosis Hyperammonemia Restlessness Drowsiness Insomnia Delusions Echolalia Enuresis Squamous cell carcinoma of the skin Esophageal stricture Cellular metachromasia Chronic infection Chronic lung disease Cor pulmonale Abnormality of the pancreas Allergy Biliary cirrhosis Ileus Rectal prolapse Nasal polyposis Secretory diarrhea Hemoptysis Productive cough Pancreatic adenocarcinoma Meconium ileus Recurrent bronchopulmonary infections Obstructive azoospermia Absent vas deferens Elevated sweat chloride Biliary tract obstruction Neoplasm of the pancreas Bronchitis Corneal scarring Spontaneous esophageal perforation Scarring alopecia of scalp Absent toenail Abnormality of the anus Absent fingernail Refractory anemia Loss of eyelashes Esophageal stenosis Mitten deformity Respiratory distress Male infertility Dyskinesia Asthma Dehydration Azoospermia Tachypnea Intestinal obstruction Pulmonary fibrosis Steatorrhea Intention tremor Telangiectasia Impotence Optic atrophy Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Fever Fatigue Axenfeld anomaly Behavioral abnormality Headache Depressivity Mandibular prognathia Arthralgia Myalgia Developmental regression Skin rash Vitamin D deficiency Papillary thyroid carcinoma Corneal opacity Coronal craniosynostosis Vertebral segmentation defect Chorioretinal atrophy Long nose Prolonged neonatal jaundice Abnormality of the ureter Posterior embryotoxon Abnormality of the vasculature Pulmonary artery stenosis Cholestatic liver disease Band keratopathy Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Arterial stenosis Butterfly vertebrae Biliary atresia Prominent nasal bridge Papule Renal hypoplasia/aplasia Abnormality of the hand Progressive hearing impairment Ischemic stroke Reduced bone mineral density Ventricular arrhythmia Tinnitus Easy fatigability Atrioventricular block Prominent supraorbital ridges Hemiplegia Ventricular tachycardia Polydipsia Personality changes Impaired vibratory sensation Diabetes insipidus Polyuria Anhidrosis Loss of consciousness Bundle branch block Aortic regurgitation Exercise intolerance Abnormality of the cerebral white matter Urinary incontinence Nausea and vomiting Paresthesia Vertigo Bulbous nose Thick eyebrow Muscle cramps Sudden cardiac death Syncope Hypotension Spontaneous abortion Ventricular hypertrophy Palpitations Mitral regurgitation Subcutaneous nodule Anorexia Bradycardia Fasciculations Abnormal autonomic nervous system physiology Hypoplasia of the ulna Spina bifida occulta Limb ataxia Hypoplasia of the thymus Recurrent lower respiratory tract infections Chromosome breakage Recurrent bronchitis Renal neoplasm B-cell lymphoma Lymphoproliferative disorder Spinocerebellar tract degeneration Absent Achilles reflex Chronic lymphatic leukemia Acute lymphoblastic leukemia Cellular immunodeficiency Abnormality of chromosome stability Chronic myelogenous leukemia Neoplasm of the breast Abnormal spermatogenesis Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Female hypogonadism Severe combined immunodeficiency Hypopigmentation of hair Aplasia/Hypoplasia of the thymus Athetosis Truncal ataxia Oculomotor apraxia Reduced tendon reflexes Cerebral palsy Breast carcinoma Slurred speech Polycystic ovaries Spinal muscular atrophy Glucose intolerance Hodgkin lymphoma Combined immunodeficiency Resting tremor Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Abnormality of the immune system Myeloid leukemia Prematurely aged appearance IgA deficiency Increased sensitivity to ionizing radiation Non-Hodgkin lymphoma Finger clinodactyly Pigmentary retinopathy Hypopigmentation of the skin Microcornea Triangular face Vesicoureteral reflux Round face Prominent nose Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Flat face Abnormality of the ribs Coarctation of aorta Renal hypoplasia Abnormal form of the vertebral bodies Renal dysplasia Exotropia Hemivertebrae Multicystic kidney dysplasia Short distal phalanx of finger Abnormality of skin pigmentation Progressive spinal muscular atrophy Clinodactyly of the 5th finger Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy IgE deficiency Defective B cell differentiation Intrauterine growth retardation Clinodactyly Areflexia Upslanted palpebral fissure Anal atresia Brachycephaly Jaundice Deeply set eye Protruding ear Craniosynostosis Retinopathy Short philtrum Broad forehead Increased corneal curvature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Atherosclerosis, related diseases and genetic alterations Neuroblastoma and Abnormal pyramidal sign, related diseases and genetic alterations Visual impairment and Atopic dermatitis, related diseases and genetic alterations Anemia and Retinal detachment, related diseases and genetic alterations Scoliosis and Nephrotic syndrome, related diseases and genetic alterations Ataxia and High palate, related diseases and genetic alterations

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