Carcinoma, and Mitral valve prolapse

Diseases related with Carcinoma and Mitral valve prolapse

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

Top matches:

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 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

Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

Other less relevant matches:

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

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low 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

The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Top 5 symptoms//phenotypes associated to Carcinoma and Mitral valve prolapse

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Carcinoma and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Growth delay Hearing impairment Abnormality of the skeletal system Renal insufficiency Abnormal facial shape Scoliosis Global developmental delay Intellectual disability, mild Abnormality of cardiovascular system morphology Midface retrusion Abnormal heart morphology Congestive heart failure Stroke Cardiomyopathy Epicanthus Heart murmur Hyperlipidemia Cryptorchidism Cataract Left ventricular hypertrophy Thick lower lip vermilion Ventricular hypertrophy Hypertelorism Pain Micrognathia Strabismus Hypertension Depressed nasal bridge Inguinal hernia Overgrowth Astigmatism Irritability Osteopenia Proptosis Hypogonadism Hernia Hepatomegaly Abnormality of the dentition Hydrocephalus Anteverted nares Ventriculomegaly Delayed puberty Macrocephaly Thick vermilion border Sensorineural hearing impairment Edema Abnormality of the kidney Anemia Headache Arrhythmia

Rare Symptoms - Less than 30% cases

Dyspnea Hypothyroidism Downslanted palpebral fissures Frontal bossing Hyperkeratosis Talipes equinovarus Posteriorly rotated ears Hyperhidrosis Ptosis Atrial septal defect Myopathy Short nose Cerebral atrophy Dilatation Neutropenia Severe short stature High palate Mitral valve calcification Coarse facial features Arteriovenous malformation Large earlobe Angina pectoris Abnormality of femur morphology Asymmetric septal hypertrophy Abnormal mitral valve morphology Abnormal aortic valve morphology Primary hypothyroidism Concentric hypertrophic cardiomyopathy Osteoporosis Spina bifida Telangiectasia Cognitive impairment Generalized hypotonia Abnormality of the nervous system Nystagmus Peripheral neuropathy Arthritis Myalgia Vomiting Transient ischemic attack Insulin resistance Fragile nails Lack of skin elasticity Abnormality of the testis Fever Thin nail Hyperinsulinemia Hypergonadotropic hypogonadism Hypertriglyceridemia Aortic aneurysm Cardiomegaly Thin vermilion border Hip dislocation Macrotia Malar flattening Generalized osteoporosis Skeletal muscle atrophy Carcinoid tumor Large for gestational age Facial asymmetry Hypoglycemia Hypospadias Abnormality of the liver Respiratory insufficiency Postnatal growth retardation Pes planus Sparse hair Hypermetropia Fatigue Joint hypermobility Macroglossia Relative macrocephaly Full cheeks Growth hormone deficiency Ataxia Decreased body weight Cafe-au-lait spot Acanthosis nigricans Nephroblastoma Hemangioma Epistaxis Ventricular septal defect Atrial fibrillation Hepatic failure Clubbing Chest pain Progressive hearing impairment Tricuspid regurgitation Thin upper lip vermilion Tachycardia Mitral regurgitation Hematuria Myocardial infarction Reduced bone mineral density Aminoaciduria Abnormal EKG Abnormality of the cardiovascular system Vertigo Hypohidrosis Lymphedema Deeply set eye Carotid artery stenosis Old-aged sensorineural hearing impairment Cerebral edema Craniofacial disproportion Regional abnormality of skin Absence of pubertal development Bilateral coxa valga Abnormal trabecular bone morphology Narrow nasal tip Insulin-resistant diabetes mellitus at puberty Reticulated skin pigmentation Parietal bossing Hypoplastic facial bones Premature coronary artery atherosclerosis Prolonged prothrombin time Arteriosclerosis Narrow nasal ridge Aplastic clavicle Hip pain Absence of subcutaneous fat Decreased testosterone in males Prominent scalp veins Sinus tachycardia Corneal arcus Intermittent claudication Widely patent fontanelles and sutures Tapering pointed ends of distal finger phalanges Bird-like facies Arteriosclerosis of small cerebral arteries Colon cancer Proximal muscle weakness Cleft palate Leiomyosarcoma Hemifacial hypertrophy Hemiareflexia Periportal fibrosis Microcephaly Acute hepatic failure Visual impairment Alkalosis Hyperreflexia Hyperammonemia Intrauterine growth retardation Distal amyotrophy Respiratory distress Microphthalmia Embryonal neoplasm Hepatoblastoma Episodic ataxia Multiple lipomas Bicuspid aortic valve Scarring Cirrhosis Skeletal muscle hypertrophy Neurofibromas Decreased serum estradiol Impaired pain sensation Asymmetry of the thorax Increased circulating cortisol level Myelomeningocele Communicating hydrocephalus Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetric growth Episodic vomiting Precocious atherosclerosis Thin bony cortex Cyanosis Hyperglutaminemia Hepatic steatosis Delayed eruption of teeth Hypodontia Limitation of joint mobility Nail dysplasia Convex nasal ridge Protein avoidance Narrow chest Elevated hepatic transaminase Osteoarthritis Thin skin Broad-based gait Dental crowding Sparse and thin eyebrow Aortic valve stenosis Infertility Carious teeth Increased bone mineral density Low plasma citrulline Parathyroid carcinoma Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Elevated serum creatine phosphokinase Flexion contracture Muscle weakness Kyphosis Alopecia Hypotrichosis Dementia Prominent forehead Narrow mouth Episodic ammonia intoxication Conductive hearing impairment Joint stiffness Microtia Dilated cardiomyopathy Aspiration Hypoargininemia Enlarged joints Down-sloping shoulders Keratoconjunctivitis sicca Hypoplastic nipples Renal cell carcinoma Short clavicles Alopecia of scalp Thrombocytosis Absent eyelashes Hyperphosphatemia Scleroderma Paranoia Wide nasal base Ovoid vertebral bodies Osteolytic defects of the phalanges of the hand Prominent superficial veins Small face Aplasia/Hypoplasia of the earlobes Pancreatitis Thin ribs Lipoatrophy Hypogonadotrophic hypogonadism Lipodystrophy Coxa valga Osteolysis Atherosclerosis Hypercholesterolemia Dermal atrophy Nasal speech Intracranial hemorrhage Respiratory alkalosis Exertional dyspnea Premature ovarian insufficiency Metaphyseal widening Abnormality of the thorax Oroticaciduria Multiple joint contractures High pitched voice Premature graying of hair Prolonged QT interval Thrombocytopenia Diabetes mellitus Patent ductus arteriosus B-cell lymphoma External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Pulmonary arteriovenous malformation Abnormality of the upper limb Aplasia/Hypoplasia of the radius Aplastic anemia Abnormality of the uterus Abnormality of the thumb Bicornuate uterus Acute monocytic leukemia Gastrointestinal carcinoma Abnormality of the hypothalamus-pituitary axis Irregular hyperpigmentation Absent radius Abnormal localization of kidney Hypoplasia of the ulna Hypopigmented skin patches Abnormality of vision Abnormality of the urinary system Myelodysplasia Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Hepatic arteriovenous malformation Abnormality of blood and blood-forming tissues Squamous cell carcinoma Ectopic kidney Hydroureter Absent thumb Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia Abnormal renal morphology Abnormality of chromosome stability Cranial nerve paralysis Aplasia/Hypoplasia of fingers Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Aortic dissection Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Subarachnoid hemorrhage Compensated hypothyroidism Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Visual loss Gastrointestinal hemorrhage Abnormality of extrapyramidal motor function Iron deficiency anemia Hemiparesis Almond-shaped palpebral fissure Absent testis Reticulocytopenia Cerebral arteriovenous malformation Abnormal aortic morphology Abnormality of nervous system morphology Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Hematochezia Partial duplication of thumb phalanx Hamartomatous polyposis Cavernous hemangioma Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Renal hypoplasia/aplasia Azoospermia Clinodactyly of the 5th finger Hypopigmentation of the skin Lethargy Mental deterioration Abnormality of skin pigmentation Bruising susceptibility Skeletal myopathy Polydactyly Recurrent corneal erosions Anal atresia Lymphoma Encephalopathy Spasticity Ketosis Bifid ureter Renal malrotation Long hallux Micronodular cirrhosis Abnormality of the foot Retinal coloboma Abnormality of the eye Upslanted palpebral fissure Aciduria Weight loss Umbilical hernia Gliosis Coma Postaxial polydactyly Abnormal cardiac septum morphology Smooth philtrum Leukemia Small for gestational age Confusion Broad nasal tip Finger syndactyly Dolichocephaly Toe syndactyly Renal agenesis Recurrent sinusitis Leukopenia Protruding ear Round face Hepatic fibrosis Renal cyst Progressive muscle weakness Calcium nephrolithiasis Talipes Coloboma Recurrent urinary tract infections Renal dysplasia Juvenile gastrointestinal polyposis Short thumb Abnormal vertebral morphology Intrapulmonary shunt Bone marrow hypocellularity Horseshoe kidney Type I diabetes mellitus Intestinal malrotation Tall stature Varicose veins Oligohydramnios Immunodeficiency Long foot Tetralogy of Fallot Enlarged kidney Bowing of the legs Large hands Sloping forehead Otitis media Aganglionic megacolon Sinusitis Pancytopenia Decreased liver function Short palpebral fissure Choanal atresia Abnormality of the genital system Spina bifida occulta Obesity Rhabdomyosarcoma Abnormality of the parathyroid gland Abnormality of the renal tubule Gastrointestinal dysmotility T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormal cornea morphology High-frequency hearing impairment Dysesthesia Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Biventricular hypertrophy Abnormal endocardium morphology Abnormality of cardiovascular system physiology Periorbital fullness Abnormal myocardium morphology Vascular skin abnormality Heat intolerance Edema of the lower limbs Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Supraventricular tachycardia Reduced ejection fraction Restrictive cardiomyopathy Peripheral arterial stenosis Clubbing of fingers Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of the nose Decreased female libido Retinal vascular tortuosity Xerostomia Heavy proteinuria Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Acroparesthesia ST segment depression Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Muscular hypotonia Functional abnormality of the gastrointestinal tract Unexplained fevers Corneal crystals Reduced sperm motility Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Angiokeratoma Mucosal telangiectasiae Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Renal tubular dysfunction Abnormality of lipid metabolism Feeding difficulties Sudden cardiac death Stage 5 chronic kidney disease Nausea Bulbous nose Thick eyebrow Nephropathy Muscle cramps Abdominal distention Syncope Nausea and vomiting Urinary incontinence Hypotension Nephrotic syndrome Palpitations Abnormal lung morphology Subcutaneous nodule Anorexia Paresthesia Malabsorption Fasciculations Arthralgia Optic atrophy Diarrhea Behavioral abnormality Depressivity Constipation Abdominal pain Mandibular prognathia Anxiety Abnormality of the cerebral white matter Proteinuria Developmental regression Skin rash Cough Prominent nasal bridge Corneal opacity Papule Pruritus Bradycardia Abnormal autonomic nervous system physiology Aortic root aneurysm Interstitial pulmonary abnormality Anhidrosis Emphysema Loss of consciousness Bundle branch block Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Diabetes insipidus Orthostatic hypotension Celiac disease Telangiectasia of the skin Glomerulopathy Abnormal heart valve morphology Glycosuria Renal tubular acidosis Wheezing Polyuria Impaired vibratory sensation Spontaneous abortion Ventricular arrhythmia Exercise intolerance Purpura Ventricular tachycardia Aortic regurgitation Abnormal intestine morphology Corneal dystrophy Ischemic stroke Tinnitus Personality changes Easy fatigability Atrioventricular block Chronic kidney disease Prominent supraorbital ridges Abnormality of the hand Hemiplegia Glomerulosclerosis Polydipsia Low-set ears Delayed speech and language development Aortic valve calcification Melena Limited elbow movement Fetal distress Bronchomalacia Papilloma Large face Deep plantar creases Hematemesis Triangular mouth Schwannoma Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Abnormality of earlobe Broad femoral neck Hypopnea Verrucae Megalencephaly Barrel-shaped chest Progeroid facial appearance Woolly hair Thick upper lip vermilion Achilles tendon contracture Large forehead Central apnea Hyperextensibility of the finger joints Redundant neck skin Labial hypoplasia Deep palmar crease Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Shyness Transitional cell carcinoma of the bladder Microscopic hematuria Hypophosphatemia Recurrent fractures Nephrolithiasis Nephrocalcinosis Breast carcinoma Hypercalciuria Polycystic kidney dysplasia Hypercalcemia Hyperparathyroidism Systolic heart murmur Neoplasm of the endocrine system Hyperphosphaturia Elevated circulating parathyroid hormone level Primary hyperparathyroidism Parathyroid adenoma Peptic ulcer Retinoblastoma Parathyroid hyperplasia Increased corneal curvature Thickened Achilles tendon Ganglioneuroblastoma Bladder carcinoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Cardiomyocyte hypertrophy Congenital neuroblastoma Loose anagen hair Macrocephaly at birth Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Thickened nuchal skin fold Severe postnatal growth retardation Motor delay Ascites Arthrogryposis multiplex congenita Pulmonic stenosis Joint hyperflexibility Wide nose High, narrow palate Sleep disturbance Postural instability Tetraplegia Wide mouth Sepsis Nevus Premature birth Webbed neck Abnormality of the skin Hip dysplasia Eczema Apraxia Pectus carinatum Feeding difficulties in infancy Hypoplasia of dental enamel Delayed skeletal maturation Dysarthria Myopia Dysphagia Short neck Long philtrum Absent speech Pectus excavatum Pes cavus Apnea Cerebral cortical atrophy Respiratory failure Polyhydramnios Gastroesophageal reflux Kyphoscoliosis Joint laxity Intellectual disability, moderate Low-set, posteriorly rotated ears Epidermal acanthosis Long eyelashes Obstructive sleep apnea Neuroblastoma Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Curly hair Rhabdomyolysis Pleural effusion Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Neonatal hypoglycemia Soft skin Hyperglycemia Failure to thrive in infancy Hyperpigmentation of the skin Short chin Wide anterior fontanel Hydrops fetalis Abnormality of the hair Hoarse voice Pointed chin Narrow palate Abnormality of dental enamel Abnormality of the fingernails Redundant skin Cutis laxa Abnormal dermatoglyphics Infantile muscular hypotonia Arnold-Chiari malformation Laryngomalacia Poor suck Hyperextensible skin Pyloric stenosis Ketotic hypoglycemia


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