Neuroblastoma, and Mitral valve prolapse

Diseases related with Neuroblastoma and Mitral valve prolapse

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


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Medium 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

Medium 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

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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Other less relevant matches:

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


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

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


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

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match HYPERPARATHYROIDISM 1; HRPT1


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

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match PLEUROPULMONARY BLASTOMA; PPB


Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

PLEUROPULMONARY BLASTOMA; PPB Is also known as ppb familial tumor and dysplasia syndrome|ppbftds

Related symptoms:

  • Neoplasm
  • Atrial septal defect
  • Patent ductus arteriosus
  • Leukemia
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEUROPULMONARY BLASTOMA; PPB

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Delayed puberty Tetralogy of Fallot Atrial septal defect Overgrowth Intellectual disability, mild Seizures Ventricular septal defect Abnormality of the skeletal system Abnormal facial shape Micrognathia Abnormality of cardiovascular system morphology Failure to thrive Growth delay Global developmental delay Scoliosis Cognitive impairment Macrocephaly Cafe-au-lait spot Sensorineural hearing impairment Dilatation Cardiomyopathy Hydrocephalus Ventriculomegaly Hearing impairment Downslanted palpebral fissures Epicanthus Ventricular hypertrophy Autism Hypertension Redundant neck skin Delayed speech and language development Anemia Embryonal rhabdomyosarcoma Generalized hypotonia Rhabdomyosarcoma Abnormality of the testis Strabismus Decreased body weight Mitral regurgitation Hip dysplasia Pulmonic stenosis Osteopenia Hypogonadism Depressed nasal bridge Delayed skeletal maturation Posteriorly rotated ears Hyperkeratosis Abnormal heart morphology Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Muscular hypotonia Abnormality of the kidney Patent ductus arteriosus Thick vermilion border Cryptorchidism Ptosis Low-set ears

Rare Symptoms - Less than 30% cases


Astigmatism Macroglossia Hypoglycemia Rocker bottom foot Hyperglycemia Abnormality of the skin Carcinoma Aortic aneurysm Feeding difficulties in infancy Infantile muscular hypotonia Wide anterior fontanel Abnormality of the hair Joint hypermobility Failure to thrive in infancy Pyloric stenosis Pointed chin Laryngomalacia Hypermetropia Hemangioma Thick lower lip vermilion Gastrointestinal hemorrhage Large for gestational age Intestinal malrotation Neoplasm of the endocrine system Parathyroid adenoma Carcinoid tumor Depressed nasal ridge Bifid uvula Cleft upper lip Cleft palate Nephroblastoma Renal cyst Overweight Neutropenia Coloboma Deeply set eye Pes planus Midface retrusion Hepatic steatosis Telangiectasia Telangiectasia of the skin Aortic valve calcification Meningioma Hypophosphatemia Tracheomalacia Visual loss Fragile nails Progeroid facial appearance Lack of skin elasticity Schwannoma Fetal distress Vestibular Schwannoma Visual impairment Behavioral abnormality Autistic behavior Clitoral hypertrophy Leukemia Recurrent fractures Gastroesophageal reflux Coarctation of aorta Hypsarrhythmia Spina bifida Reduced bone mineral density Breast carcinoma Sarcoma Kyphoscoliosis Arnold-Chiari type I malformation Abnormal mitral valve morphology Bilateral cryptorchidism Multiple cafe-au-lait spots Freckling Myopathy Decreased fertility Respiratory insufficiency Pectus excavatum Talipes equinovarus Brachycephaly Mandibular prognathia Neonatal hypotonia Dysphagia Frontal bossing Pectus carinatum Myopia Dysarthria Long philtrum Joint hyperflexibility Nevus Feeding difficulties Webbed neck High palate Nystagmus Abnormality of the pulmonary artery Abnormality of the voice Specific learning disability Hyperextensible skin Abnormality of the genital system Melanoma Abnormal pulmonary valve morphology Left ventricular hypertrophy Short nose Anteverted nares Spina bifida occulta Intrauterine growth retardation Pes cavus Cerebral atrophy Absent speech Hernia Wide nasal bridge Hypospadias Renal insufficiency Cerebral cortical atrophy Curly hair Inguinal hernia Short neck Kyphosis Nephrolithiasis Malar flattening Polycystic kidney dysplasia Hypercalciuria Obesity Nephrocalcinosis Multinodular goiter Abnormality of the cerebral ventricles Persistence of hemoglobin F Reticulocytopenia Abnormality of the renal pelvis Clinodactyly Cleft soft palate Increased mean corpuscular volume Esophagitis Acute leukemia Clinodactyly of the 5th finger Macrocytic anemia Triphalangeal thumb Abnormal parietal bone morphology Hypercalcemia Parathyroid carcinoma Hyperparathyroidism Transposition of the great arteries Calcium nephrolithiasis Goiter Abnormality of the parathyroid gland Mitral valve calcification Parathyroid hyperplasia Elevated alkaline phosphatase of bone origin Retinoblastoma Polyarticular chondrocalcinosis Peptic ulcer Microcephaly Abnormality of the hand Muscle weakness Solitary renal cyst Hodgkin lymphoma Primary hyperparathyroidism Medulloblastoma Cataract Brachydactyly Generalized osteoporosis Optic atrophy Agenesis of the anterior commissure Elevated circulating parathyroid hormone level Gait disturbance Hyperphosphaturia Histiocytosis Hypoplasia of the corpus callosum Abnormal external genitalia Abnormality of the urinary system Abnormality of circulating leptin level Cavernous hemangioma Arteriovenous malformation Hematochezia Aortic dissection Subarachnoid hemorrhage Iron deficiency anemia Colon cancer Clubbing Hemiparesis Epistaxis Abnormality of extrapyramidal motor function Stroke Arthritis Sclerosis of hand bone Cerebral arteriovenous malformation Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Neoplasm of the breast Generalized lipodystrophy Hamartomatous polyposis Gastrointestinal carcinoma Pulmonary sequestration Varicose veins Short thumb Pleuropulmonary blastoma Migraine Bicuspid pulmonary valve Pallor Cleft lip Retrognathia Primitive neuroectodermal tumor Fatigue Bifid ureter Renal malrotation Long hallux Constipation Long foot Pulmonary arteriovenous malformation Enlarged kidney Bowing of the legs Large hands Tall stature Renal dysplasia Round face Medulloepithelioma Talipes Protruding ear Macrotia Juvenile gastrointestinal polyposis Intrapulmonary shunt Hepatic arteriovenous malformation Retinal coloboma Camptodactyly Agenesis of corpus callosum Abnormality of the hairline Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Epileptic spasms Abnormal lung lobation Oppositional defiant disorder Foot polydactyly Dilation of lateral ventricles Abnormal heart valve morphology Polyphagia Macule White forelock High hypermetropia Infantile spasms Hypoplastic female external genitalia Abnormality of the immune system Spinal canal stenosis Absent septum pellucidum Slender long bone Anteriorly placed anus Congenital hypothyroidism Submucous cleft hard palate Aortic root aneurysm 11 pairs of ribs Delayed CNS myelination Dysphasia Lambdoidal craniosynostosis Talipes valgus Abnormal social behavior Hypoplastic labia minora Cranial nerve VI palsy Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Impaired social interactions Asymmetry of the ears Thickened helices Volvulus Left ventricular noncompaction Abnormality of the spleen Delayed closure of the anterior fontanelle Rib fusion Noncompaction cardiomyopathy Colpocephaly Abnormal corpus callosum morphology Abnormal renal physiology Abnormal left ventricle morphology Biliary tract abnormality Abnormality of chromosome stability Cavum septum pellucidum Periventricular leukomalacia Hypermelanotic macule Delayed cranial suture closure Hyperplastic labia majora Camptodactyly of finger Delayed myelination Brain atrophy Short foot Polymicrogyria Oral cleft Poor speech Synophrys Abnormality of the cerebral white matter Dilated cardiomyopathy Small for gestational age Congenital talipes calcaneovalgus Neurological speech impairment Aplasia/Hypoplasia involving bones of the feet Microtia Abnormal cardiac septum morphology Abnormal blistering of the skin Conductive hearing impairment Prominent forehead Upslanted palpebral fissure Micropenis Narrow mouth Hypothyroidism EEG abnormality Hydronephrosis Blepharophimosis Aggressive behavior Horizontal eyebrow Abnormality of the eye Abnormality of the pinna Joint stiffness Abnormality of the liver Epileptic encephalopathy Hypoplasia of penis Metatarsus adductus Delayed gross motor development Bicuspid aortic valve Aplasia/Hypoplasia of the corpus callosum Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Sacral dimple Scrotal hypoplasia Abnormality of vision Hypercholesterolemia Patent foramen ovale Hand polydactyly Self-injurious behavior Congenital sensorineural hearing impairment Hemiplegia/hemiparesis Bifid ribs Leukoencephalopathy Cranial nerve paralysis Optic disc pallor Bilobate gallbladder Abnormality of the ribs Interphalangeal joint contracture of finger Tetraparesis Hypertrichosis Pachygyria Heterotopia Large fontanelles Abnormal intestine morphology Stereotypy Short phalanx of finger Widened subarachnoid space Generalized hirsutism Narrow palpebral fissure Spastic tetraparesis Abnormal hair quantity Anomalous pulmonary venous return Exercise-induced myalgia Rhabdomyolysis Large earlobe Woolly hair Barrel-shaped chest Megalencephaly Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Central hypotonia Generalized hyperpigmentation Ulnar deviation of finger Keratoconus Achilles tendon contracture Reduced subcutaneous adipose tissue Neurodevelopmental delay Tricuspid regurgitation Hypoplastic toenails Heart murmur Pleural effusion Redundant skin Poor suck Relative macrocephaly Arnold-Chiari malformation Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Thick upper lip vermilion Large forehead Abnormality of dental enamel Large face Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Papilloma Verrucae Bronchomalacia Limited elbow movement Abnormality of earlobe Broad femoral neck Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Central apnea Short chin Narrow palate Ganglioneuroblastoma Wolff-Parkinson-White syndrome Severe short stature Abnormality of the dentition Edema Hepatomegaly Motor delay Numerous nevi Hypoplasia of the ovary Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Right ventricular hypertrophy Respiratory failure Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Atrioventricular canal defect Abnormality of the ear External genital hypoplasia Bundle branch block Melanocytic nevus Myelodysplasia Scapular winging Subcutaneous nodule Abnormality of the face Myocardial infarction Triangular face Hyperhidrosis Proptosis Hoarse voice Ascites Hydrops fetalis Lymphedema Hyperpigmentation of the skin Long eyelashes Hypoplasia of dental enamel Atrial fibrillation Epidermal acanthosis Apraxia Eczema Growth hormone deficiency Premature birth Full cheeks Sepsis Tetraplegia Postural instability Polyhydramnios Postnatal growth retardation Coarse facial features Abnormality of the nervous system Joint laxity Intellectual disability, moderate Apnea Irritability Wide mouth Sleep disturbance Sparse hair Arthrogryposis multiplex congenita Tachycardia Wide nose Hematuria High, narrow palate Transitional cell carcinoma of the bladder Frontal hirsutism Chondrocalcinosis Inguinal freckling Short palm Thin vermilion border Retinal degeneration Congenital cataract Hypotrichosis Diabetes mellitus Alopecia Congestive heart failure Skeletal muscle atrophy Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Plexiform neurofibroma Convex nasal ridge Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Limitation of joint mobility Type II diabetes mellitus Gastrointestinal stroma tumor Aplasia/Hypoplasia of the skin Prominent superficial veins Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Osteolytic defects of the phalanges of the hand Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Ovarian neoplasm Sparse body hair Glycosuria Lipoatrophy Hypertriglyceridemia Finger clinodactyly Thin skin Abnormality of retinal pigmentation Skin ulcer Aortic valve stenosis Narrow face Increased bone mineral density Neoplasm of the skin Aplasia/Hypoplasia of the eyebrow Hyperinsulinemia Premature ovarian insufficiency Abnormality of the thorax Calf muscle hypertrophy Premature graying of hair Coronary artery atherosclerosis Fibular bowing Neoplasm of the central nervous system Deep-set nails Systolic heart murmur Genu valgum Malabsorption Pruritus Attention deficit hyperactivity disorder Paralysis Weight loss Glaucoma Hyperactivity Depressivity Headache Blindness Peripheral neuropathy Pain Increased corneal curvature Thickened Achilles tendon Paresthesia Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Facial asymmetry Peripheral axonal neuropathy Lisch nodules Severe vision loss Chronic myelogenous leukemia Renal phosphate wasting Glioma Nasolacrimal duct obstruction Paraganglioma Night sweats Complete atrioventricular canal defect Pheochromocytoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Gangrene Increased reactive oxygen species production Renal cell carcinoma Abnormality of skin pigmentation Venous thrombosis Lymphoma Abnormality of the cardiovascular system Aganglionic megacolon Bone pain Sensorimotor neuropathy Atherosclerosis Incoordination Osteomalacia Back pain Precocious puberty Sensory axonal neuropathy Pulmonary fibrosis Neurofibromas Tibial bowing Ewing sarcoma



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