Anemia, and Mitral valve prolapse

Diseases related with Anemia and Mitral valve prolapse

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


Top matches:

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 FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

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

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Other less relevant matches:

Low match 8P11.2 DELETION SYNDROME


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

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low 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

Low 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

Low 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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Abnormality of the cardiovascular system Mitral regurgitation Atrial septal defect Hepatosplenomegaly Patent ductus arteriosus Behavioral abnormality Cognitive impairment Dilatation Abnormality of the skeletal system Hydrocephalus Abnormal heart morphology Dyspnea Dysarthria Edema Neoplasm Frontal bossing Hearing impairment Micrognathia Developmental regression Fatigue Ventricular septal defect Hepatomegaly Delayed puberty Splenomegaly Depressed nasal bridge Failure to thrive Hypertension Epistaxis Malabsorption Ventriculomegaly Gastrointestinal hemorrhage Arrhythmia Stroke

Rare Symptoms - Less than 30% cases


Ptosis Overgrowth Sensorineural hearing impairment Myocardial fibrosis Reduced bone mineral density Skin rash Paralysis Posteriorly rotated ears Abnormality of the cerebral white matter Bruising susceptibility Ascites Recurrent fractures Optic atrophy Macrocephaly Fever Hypothyroidism Abnormality of the nervous system Hyperkeratosis Abnormality of the kidney Pneumonia Thrombocytopenia Hyperreflexia Elevated erythrocyte sedimentation rate Generalized hypotonia Azoospermia Hypogonadism Abnormality of cardiovascular system physiology Epicanthus Reticulocytopenia Increased mean corpuscular volume Paresthesia Anteverted nares Pain Bradycardia Clinodactyly Headache Abnormal cardiac septum morphology Nausea Coarctation of aorta Atrial fibrillation Aortic regurgitation Diarrhea Atrioventricular block Bundle branch block Intellectual disability, mild Respiratory insufficiency Peripheral neuropathy Complete atrioventricular canal defect Anomalous pulmonary venous return Abnormality of cardiovascular system morphology Vomiting Pruritus Tachycardia Hyperactivity Proptosis Mandibular prognathia Hypertrophic cardiomyopathy Kyphoscoliosis Coarse facial features Depressivity Abnormality of the hand Progressive hearing impairment Heart murmur Edema of the lower limbs Communicating hydrocephalus Hyperplasia of the maxilla Obstructive lung disease Short digit Triphalangeal thumb Cardiomyopathy Short thumb Tetralogy of Fallot Autism Hemiparesis Transient ischemic attack Telangiectasia Visual loss Intrauterine growth retardation Dystonia Autistic behavior Cleft palate Cleft upper lip Abnormal pyramidal sign Hemolytic anemia Arthritis Muscle cramps Hematuria Spasticity Clubbing Ischemic stroke Thick lower lip vermilion Hemiplegia Ventricular hypertrophy Osteoporosis Cataract Lipoatrophy Leukocytosis Type I diabetes mellitus Osteolysis Plagiocephaly Sleep apnea Lipodystrophy Recurrent pharyngitis Decreased serum testosterone level Psoriasiform dermatitis Increased antibody level in blood Varicose veins Nasal obstruction Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Hallux valgus Severe sensorineural hearing impairment Hyperglycemia Episodic fever Stridor Polycythemia Scleroderma Microcytic anemia Exocrine pancreatic insufficiency Broad finger Skin nodule Seborrheic keratosis Corneal opacity Prominent nasal bridge Cough Proteinuria Anxiety Carcinoma Myalgia Arthralgia Abdominal pain Hyperhidrosis Constipation Midface retrusion Renal insufficiency Congestive heart failure Retroperitoneal fibrosis Histiocytosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hypergonadotropic hypogonadism Pancreatic hypoplasia Chronic rhinitis Elbow flexion contracture Hypertrichosis Aspiration Arterial fibromuscular dysplasia Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Cerebral artery stenosis Neuroma Tibial pseudoarthrosis Brow ptosis Aortic aneurysm Flexion contracture Brachydactyly Wide nasal bridge Neurofibrosarcoma Vestibular Schwannoma Hernia Dural ectasia Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Epigastric pain Embryonal rhabdomyosarcoma Soft tissue sarcoma Pseudoarthrosis Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Hemangioma Delayed skeletal maturation Gynecomastia Epidermal acanthosis Growth hormone deficiency Wide intermamillary distance Decreased testicular size Amenorrhea Bilateral sensorineural hearing impairment Cardiomegaly Blue sclerae Polyneuropathy Hypertriglyceridemia Nausea and vomiting Primary amenorrhea Bronchiectasis Gingival overgrowth Hyperpigmentation of the skin Full cheeks Flat face Alopecia Low-set, posteriorly rotated ears Severe short stature Diabetes mellitus Micropenis Abnormality of extrapyramidal motor function Pes planus Conductive hearing impairment Camptodactyly Ichthyosis Joint hypermobility Apnea Retinopathy Pectus carinatum Hypotrichosis Abnormality of the foot Lymphadenopathy Papule Abdominal distention Vertigo Conjunctival telangiectasia Tubulointerstitial fibrosis Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Supraventricular arrhythmia Microalbuminuria Abnormal renal physiology Primary hypothyroidism Biventricular hypertrophy Abnormal endocardium morphology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Chronic pain Miosis Limb pain Restrictive cardiomyopathy Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Chronic fatigue Abnormality of femur morphology Abnormality of the nose Abnormal myocardium morphology T-wave inversion High-frequency hearing impairment Asymmetric septal hypertrophy Abnormal mitral valve morphology Periorbital fullness Gastrointestinal dysmotility Abnormal aortic valve morphology Corneal crystals Abnormality of temperature regulation Clubbing of fingers Heavy proteinuria Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Acroparesthesia Functional abnormality of the gastrointestinal tract 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 Impaired renal concentrating ability ST segment depression Nephrogenic diabetes insipidus Impaired temperature sensation Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Hyposthenuria Unexplained fevers Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Angina pectoris Peripheral arterial stenosis Stage 5 chronic kidney disease Purpura Lymphedema Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Aminoaciduria Hyperlipidemia Anorexia Ventricular tachycardia Abnormal intestine morphology Corneal dystrophy Ventricular arrhythmia Tinnitus Easy fatigability Hypohidrosis Left ventricular hypertrophy Prominent supraorbital ridges Sudden cardiac death Bulbous nose Thick eyebrow Thick vermilion border Nephropathy Schwannoma Chest pain Syncope Subcutaneous nodule Urinary incontinence Hypotension Nephrotic syndrome Myocardial infarction Palpitations Abnormal lung morphology Chronic kidney disease Glomerulosclerosis Reduced ejection fraction Tubulointerstitial nephritis Wheezing Aortic root aneurysm Abnormality of lipid metabolism Abnormal EKG Xerostomia Renal tubular dysfunction Elevated serum creatinine Glycosuria Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Large earlobe Supraventricular tachycardia Heat intolerance Renal tubular acidosis Abnormal heart valve morphology Polydipsia Emphysema Personality changes Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Polyuria Anhidrosis Loss of consciousness Glomerulopathy Impotence Coronary artery atherosclerosis Interstitial pulmonary abnormality Progressive sensorineural hearing impairment Orthostatic hypotension Celiac disease Telangiectasia of the skin Renal phosphate wasting Brain neoplasm Glioma Rapid neurologic deterioration Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Low-set ears Hemianopia Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Bone-marrow foam cells Kyphosis Head tremor Dysphonia Athetosis Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Trismus Supranuclear gaze palsy Supranuclear ophthalmoplegia Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Cataplexy Short neck Inguinal hernia Clumsiness Pericardial effusion Thickened skin Cerebral hemorrhage Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Intracranial hemorrhage Protruding tongue Recurrent otitis media Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Beaking of vertebral bodies Thoracolumbar kyphosis Abnormality of the face Pulmonary arterial hypertension Prominent forehead Umbilical hernia Hypoplasia of the iris Posterior embryotoxon Restlessness Limb dystonia Visual field defect Opisthotonus Aggressive behavior Dysphasia Postnatal growth retardation Joint stiffness Cortical dysplasia Macroglossia Limitation of joint mobility Cyanosis Schizophrenia Progressive neurologic deterioration Hypochromic anemia Talipes equinovarus Abnormality of the hypothalamus-pituitary axis External ear malformation Preauricular pit Anosmia Sacral dimple Hypogonadotrophic hypogonadism Hypoplasia of penis Microcornea Retinal dystrophy Iris coloboma Blepharophimosis Neutropenia Upslanted palpebral fissure Bifid uvula Migraine Supernumerary ribs Esophagitis Abnormality of the urinary system Abnormality of the genital system Depressed nasal ridge Macrocytic anemia Tracheomalacia Acute leukemia Cleft soft palate Feeding difficulties Fetal distress Persistence of hemoglobin F Microcephaly Nystagmus Cryptorchidism High palate Spherocytosis Ataxia Intention tremor Pontocerebellar atrophy Abnormality of movement Retinal degeneration Cirrhosis Schizencephaly Neurodegeneration Sleep disturbance Tetraplegia Perivascular spaces Chorea Neuronal loss in central nervous system Oligohydramnios Spastic tetraplegia Intellectual disability, profound Psychosis Ophthalmoplegia Generalized tonic-clonic seizures Muscular hypotonia Dementia Pallor Cleft lip Tremor Gait disturbance Dysphagia Retrognathia Myoclonus Neurological speech impairment Jaundice Short nose Neonatal hypotonia Mental deterioration Antenatal intracerebral hemorrhage Spastic hemiparesis Inspiratory stridor Drooling Nasolacrimal duct obstruction Arteriovenous malformation Cafe-au-lait spot Aganglionic megacolon Hypsarrhythmia Iron deficiency anemia Specific learning disability Lymphoma Subarachnoid hemorrhage Abnormality of skin pigmentation Peripheral axonal neuropathy Aortic dissection Facial asymmetry Genu valgum Hematochezia Pulmonic stenosis Leukemia Sensorimotor neuropathy Gastrointestinal carcinoma Delayed speech and language development Visual impairment Intrapulmonary shunt Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Blindness Cerebral arteriovenous malformation Attention deficit hyperactivity disorder Hamartomatous polyposis Glaucoma Weight loss Osteopenia Hypoglycemia Cavernous hemangioma Bone pain Spina bifida Strabismus Astrocytoma Overweight Increased reactive oxygen species production Gangrene Meningioma Neoplasm of the endocrine system Melanoma Aqueductal stenosis Renal cell carcinoma Parathyroid adenoma Pheochromocytoma Night sweats Paraganglioma Carcinoid tumor Rhabdomyosarcoma Severe vision loss Osteomalacia Atherosclerosis Precocious puberty Venous thrombosis Colon cancer Breast carcinoma Incoordination Sarcoma Back pain Clitoral hypertrophy Multiple cafe-au-lait spots Sensory axonal neuropathy Hypophosphatemia Pulmonary fibrosis Neurofibromas Tibial bowing Freckling Juvenile gastrointestinal polyposis Abnormal facial shape Abnormality of the optic disc Tetraparesis Eosinophilia Finger clinodactyly Horseshoe kidney Aortic valve stenosis Elevated serum creatine phosphokinase Abnormal vertebral morphology Babinski sign Cerebellar hypoplasia Asthma Polymicrogyria Polydactyly Pectus excavatum Renal cyst Syndactyly Respiratory distress Hypertonia Leukoencephalopathy J-shaped sella turcica Cerebral palsy Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Anisopoikilocytosis Abnormality of mucopolysaccharide metabolism Exotropia Dermatan sulfate excretion in urine Intervertebral space narrowing Focal seizures, afebril Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids Hypoplasia of the radius Bowing of the legs Scoliosis Partial duplication of thumb phalanx Ecchymosis Phocomelia Total anomalous pulmonary venous return Hematemesis Small thenar eminence Abnormality of the carpal bones Aplasia of the ulna Secundum atrial septal defect Mesoaxial polydactyly Aplasia of the pectoralis major muscle Tibial torsion Lactose intolerance Patellar subluxation Quadricuspid aortic valve Allergy Down-sloping shoulders Hypoplasia of the ulna Absent thumb Menorrhagia Cerebellar atrophy Right bundle branch block Hypoplastic left heart Petechiae Limited elbow extension Atrioventricular canal defect Truncus arteriosus Short humerus Oligodactyly Absent radius Thoracic scoliosis Short clavicles Heart block Cornea verticillata



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