Hepatomegaly, and Azoospermia

Diseases related with Hepatomegaly and Azoospermia

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

Top matches:

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Other less relevant matches:

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

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Medium match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Azoospermia

Symptoms // Phenotype % cases
Hypogonadism Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Azoospermia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Hypothyroidism Elevated hepatic transaminase Global developmental delay Congestive heart failure Delayed puberty Abnormality of the liver Patent ductus arteriosus Abdominal pain Cardiomyopathy Cirrhosis Intellectual disability Vomiting Hypogonadotrophic hypogonadism Nystagmus Amenorrhea Fever Fatigue Insulin resistance Hyperpigmentation of the skin Neoplasm Anemia Epicanthus Failure to thrive Atrial septal defect Hypertelorism Respiratory distress Postnatal growth retardation Strabismus Restrictive cardiomyopathy Gastroesophageal reflux Cataract Dilatation Cryptorchidism High palate Renal insufficiency Hypergonadotropic hypogonadism Micrognathia Pes planus Sensorineural hearing impairment Ptosis Frontal bossing Clinodactyly Abnormal heart morphology Proptosis Exocrine pancreatic insufficiency Microcephaly Abnormality of the kidney Abnormal cardiac septum morphology Retinopathy Male infertility Hypotrichosis Cardiomegaly Abdominal distention Telangiectasia Hearing impairment Increased serum iron Dilated cardiomyopathy Ataxia Alopecia Seizures Abnormality of the hypothalamus-pituitary axis Increased serum ferritin Cognitive impairment Infertility Reticulocytopenia Hypertension Carcinoma Portal hypertension Feeding difficulties Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Constipation Dyspnea Myelodysplasia Short neck Conductive hearing impairment Low-set, posteriorly rotated ears Blindness Photophobia Proteinuria Abnormality of the foot Lymphadenopathy Hyperkeratosis Delayed skeletal maturation Posteriorly rotated ears Ventriculomegaly Failure to thrive in infancy Elevated alkaline phosphatase Left ventricular hypertrophy Pulmonic stenosis Hyperreflexia Brachydactyly Ventricular septal defect Hydrocephalus Severe short stature Sparse hair Edema Intellectual disability, mild Hernia Kyphoscoliosis Rod-cone dystrophy Wide intermamillary distance Pneumonia Growth hormone deficiency Primary amenorrhea Decreased testicular size Irritability Visual impairment Headache Abnormality of cardiovascular system morphology Thrombocytopenia Upslanted palpebral fissure Weight loss External ear malformation Abnormality of blood and blood-forming tissues Primary hypothyroidism Leukemia Facial asymmetry Abnormality of skin pigmentation Bruising susceptibility Hypopigmentation of the skin Recurrent urinary tract infections Hydroureter Glucose intolerance Abnormal renal morphology Male hypogonadism Mitral valve prolapse Hyperglycemia Epidermal acanthosis Hypertriglyceridemia Hyperinsulinemia Gynecomastia Stage 5 chronic kidney disease Type I diabetes mellitus Plagiocephaly Leukocytosis Glycosuria Severe sensorineural hearing impairment Retinal dystrophy Pigmentary retinopathy Scoliosis Depressed nasal bridge Abnormal facial shape Polydipsia Polyuria Hypertrophic cardiomyopathy Lipodystrophy Pancreatitis Sinusitis Microcytic anemia Testicular atrophy Hepatic failure Bronchitis Nausea Arthropathy Impotence Pulmonary fibrosis Bronchiectasis Malabsorption Cough Dehydration Recurrent pneumonia Arthritis Emphysema Muscle weakness Recurrent respiratory infections Nephrocalcinosis Arrhythmia Respiratory failure Tachypnea Osteoporosis Respiratory tract infection Scarring Chronic obstructive pulmonary disease Pericarditis Asthma Pallor Hepatic steatosis Chronic infection Hepatitis Ascites Hepatic fibrosis Elevated transferrin saturation Recurrent infections Acute hepatic failure Cafe-au-lait spot Episodic metabolic acidosis Rachitic rosary Oral motor hypotonia Elevated intracellular cystine Receptive language delay Dystonia Delayed speech and language development Motor delay Peripheral neuropathy Optic atrophy Respiratory insufficiency Abnormality of the dentition Depressivity Obesity Behavioral abnormality Kyphosis Tubulointerstitial fibrosis Hyporeflexia Encephalopathy Ophthalmoplegia Progressive visual loss Otitis media Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Sleep disturbance Nephropathy Hirsutism Tachycardia Retinal degeneration Dry skin Carious teeth Hypermetropia Visual loss Generalized tonic-clonic seizures Nyctalopia Autistic behavior Myalgia Deeply set eye Jaundice Autism Chronic active hepatitis Polydactyly Hyperhidrosis Myoclonus Hyperostosis frontalis interna Corneal crystals Retinal pigment epithelial mottling Hypopigmentation of hair Renal Fanconi syndrome Neurofibrosarcoma EEG with occipital slowing Abnormality of prothrombin Postductal coarctation of the aorta Abnormality of renal calyx morphology Localized hirsutism Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Reduced factor XII activity Precocious puberty in females Vitreous haze Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Atrial flutter Nonimmune hydrops fetalis Drusen Skeletal muscle atrophy Dysphagia Generalized aminoaciduria Metaphyseal widening Hypophosphatemic rickets Recurrent corneal erosions Decreased plasma carnitine Granular macular appearance Heat intolerance Preeclampsia Flushing Microscopic hematuria Cyanosis Thickened ears Dilatation of the bladder Oral-pharyngeal dysphagia Hyponatremia Rickets Unilateral breast hypoplasia Abnormal retinal artery morphology Chronic kidney disease Hypohidrosis Nephrolithiasis Glue ear Progressive neurologic deterioration Cerebral calcification Memory impairment Generalized muscle weakness Confusion Genu valgum Recurrent cystitis Cerebral atrophy Myopathy Widely-spaced incisors Specific learning disability Decreased liver function Optic disc pallor Right ventricular hypertrophy Ovarian cyst High-frequency hearing impairment Esophageal varix Chronic fatigue Myocardial fibrosis Oligospermia Impaired temperature sensation Female hypogonadism Myocarditis Abnormal muscle tone Tubular atrophy Recurrent bronchitis Elevated serum creatinine Attenuation of retinal blood vessels Abnormal chorioretinal morphology Tubulointerstitial nephritis Pendular nystagmus Gingivitis Albuminuria Ketoacidosis Arnold-Chiari type I malformation Broad foot Posterior subcapsular cataract Renovascular hypertension Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Urethral stricture Decreased HDL cholesterol concentration Insulin-resistant diabetes mellitus Bull's eye maculopathy Abnormal left ventricle morphology Arteriosclerosis Urinary retention Poor fine motor coordination Abnormal renal physiology Pyelonephritis Chills Acute pancreatitis Achromatopsia Disinhibition Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Vertical nystagmus Epigastric pain Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Retinal pigment epithelial atrophy Decreased glomerular filtration rate Abnormal spermatogenesis Abnormality of the urethra Lumbar scoliosis Endocardial fibroelastosis Abnormality of dental color Menstrual irregularities Retinal atrophy Hypoventilation Type II diabetes mellitus Absence seizures Hypercholesterolemia Chronic hepatic failure Facial hirsutism ST segment depression Hyperlipidemia Atherosclerosis Multifocal atrial tachycardia Acanthosis nigricans Childhood-onset truncal obesity Macular degeneration High-frequency sensorineural hearing impairment Increased circulating androgen level Accelerated skeletal maturation Generalized hirsutism Cone/cone-rod dystrophy Increased body weight Horizontal nystagmus Short toe Elevated C-reactive protein level Abnormality of retinal pigmentation Exudative retinopathy Nonproductive cough Anorexia Abnormal adipose tissue morphology Chronic diarrhea Thickened skin Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Hepatic necrosis Goiter Autoimmune thrombocytopenia Diabetes insipidus Thoracic scoliosis Subcapsular cataract Increased number of teeth Hyperuricemia Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hyperostosis Hypoplastic male external genitalia Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Precocious puberty Cholelithiasis Abnormality of the hand Squared iliac bones Polycystic ovaries Urethral obstruction Abnormality of the pituitary gland Malignant hyperthermia Aplastic anemia Gonadal dysgenesis Bilateral sensorineural hearing impairment Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Stridor Psoriasiform dermatitis Sleep apnea Osteolysis Elbow flexion contracture Aspiration Gingival overgrowth Hypertrichosis Blue sclerae Epistaxis Overgrowth Scleroderma Full cheeks Recurrent fractures Polyneuropathy Flat face Cleft upper lip Ichthyosis Pectus carinatum Apnea Camptodactyly Micropenis Anteverted nares Wide nasal bridge Flexion contracture Lipoatrophy Polycythemia Microscopic nephrocalcinosis Corneal arcus Cleft palate Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Hyperplasia of the maxilla Episodic fever Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Generalized hypotonia Echogenic fetal bowel Abnormality of the skeletal system Osteopenia Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Neoplasm of the liver Increased reactive oxygen species production Hepatocellular carcinoma Osteomalacia Abnormal joint morphology Pleural effusion Arthralgia Abnormality of endocrine pancreas physiology Immunodeficiency Abnormality of the anterior pituitary Abnormality of iron homeostasis Congenital hepatic fibrosis Generalized hyperpigmentation Lethargy Dysplastic erythropoesis Decreased transferrin saturation Elevated hepatic iron concentration Anisopoikilocytosis Hypochromic anemia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Adrenal insufficiency Diarrhea Dyskinesia Cellular metachromasia Pneumothorax Biliary tract obstruction Elevated sweat chloride Absent vas deferens Obstructive azoospermia Recurrent bronchopulmonary infections Meconium ileus Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Nasal polyposis Rectal prolapse Ileus Decreased antibody level in blood Biliary cirrhosis Allergy Abnormality of the pancreas Cor pulmonale Chronic lung disease Neoplasm of the pancreas Hemoptysis Wheezing Steatorrhea Malnutrition Intestinal obstruction Clubbing Hypercalciuria Abnormal lung morphology Intrauterine growth retardation Microphthalmia Neuroblastoma Anemic pallor Sacral dimple Hypoplasia of penis Microcornea Hemolytic anemia Iris coloboma Blepharophimosis Talipes equinovarus Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Preauricular pit Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Anosmia Spherocytosis Duodenal stenosis Amblyopia Abnormality of the vertebral column Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Lymphedema Clumsiness Supernumerary ribs Low posterior hairline Ventricular hypertrophy Coarctation of aorta Webbed neck Dental malocclusion Abnormal bleeding Triangular face High, narrow palate Broad forehead Polyhydramnios Pectus excavatum Downslanted palpebral fissures Myopia Low-set ears Duplicated collecting system Abnormality of nervous system morphology Hypospadias Sloping forehead Cranial nerve paralysis Leukopenia Horseshoe kidney Bone marrow hypocellularity Spina bifida Abnormal vertebral morphology Short thumb Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Tetralogy of Fallot Hypopigmented skin patches Renal agenesis Lymphoma Neutropenia Vertigo Astigmatism Anal atresia Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Small for gestational age Abnormality of the eye Umbilical hernia Clinodactyly of the 5th finger Renal hypoplasia/aplasia Reduced bone mineral density Abnormal aortic morphology Abnormal eyelid morphology Abnormality of chromosome stability Abnormal localization of kidney Abnormal aortic valve morphology Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Chromosome breakage Abnormality of vision Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Abnormality of the urinary system Abnormality of the femoral head


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