Congestive heart failure, and Polycystic kidney dysplasia

Diseases related with Congestive heart failure and Polycystic kidney dysplasia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Polycystic kidney dysplasia that can help you solving undiagnosed cases.


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High match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

High match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

High match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

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High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

High match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Low match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Renal cyst Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Respiratory distress Cataract Abnormality of the liver Behavioral abnormality Cardiomegaly Microcephaly Micrognathia Renal insufficiency Hypertension Hepatomegaly Respiratory failure Neoplasm Pain Intellectual disability, mild Ptosis Autism Hypothyroidism Attention deficit hyperactivity disorder Abnormality of the cerebral white matter Gliosis Hearing impairment Heterotopia Generalized hypotonia Cryptorchidism Muscular hypotonia Nystagmus Low-set ears High palate Feeding difficulties Ventriculomegaly Cardiomyopathy Posteriorly rotated ears Motor delay Elevated hepatic transaminase Neonatal hypotonia Hepatic steatosis Abnormal facial shape Strabismus Hypertelorism High forehead Macrocephaly Oligohydramnios Multiple renal cysts

Rare Symptoms - Less than 30% cases


Joint hyperflexibility Subungual fibromas Growth delay Fatigue Wide nasal bridge Limb muscle weakness Flexion contracture Enlarged kidney Delayed speech and language development Atelectasis Cleft palate Sensorineural hearing impairment Achromatic retinal patches Rhabdomyoma Abnormality of the pinna Atrial septal defect Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Depressed nasal bridge Renal angiomyolipoma Abnormality of the kidney Elevated serum creatine phosphokinase Pulmonary hypoplasia Shagreen patch Bilateral ptosis Macrotia Hypoketotic hypoglycemia Hernia Hypospadias Pectus excavatum Nonketotic hypoglycemia Increased muscle lipid content Failure to thrive Ataxia Hyperammonemia Epiphyseal dysplasia Knee flexion contracture Inguinal hernia Acidosis Renal dysplasia Progressive hearing impairment Aciduria Coma Metabolic acidosis Tapered finger Arthralgia Polymicrogyria Lethargy Dilated cardiomyopathy Feeding difficulties in infancy Hypoglycemia Cholestasis Ependymoma Angiofibromas Talipes Polyhydramnios Vomiting Cognitive impairment Generalized-onset seizure Optic atrophy Cerebral calcification Specific learning disability Headache EEG abnormality Retrognathia Subcutaneous nodule Adenoma sebaceum Chest pain Hyperactivity Severe intrauterine growth retardation Glaucoma Underdeveloped nasal alae Cortical dysplasia Emphysema Nausea Autistic behavior Cafe-au-lait spot Dyspnea Malar flattening Intrauterine growth retardation Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Wormian bones Wolff-Parkinson-White syndrome Pachygyria Short neck Abnormality of the respiratory system Skin tags Microphthalmia Renal cell carcinoma Hamartoma Infantile spasms Congenital diaphragmatic hernia Aortic aneurysm Precocious puberty Leukodystrophy Delayed cranial suture closure Cor pulmonale Premature skin wrinkling Arterial stenosis Bladder diverticulum Ileus Ascending tubular aorta aneurysm Anemia Recurrent respiratory infections Vesicoureteral reflux Pulmonary artery stenosis Shock Overgrowth Bilateral sensorineural hearing impairment Recurrent urinary tract infections Full cheeks Abnormality of the face Cutis laxa Recurrent fractures Hemolytic anemia Shawl scrotum Arachnodactyly Pulmonic stenosis Hip dislocation Joint laxity Umbilical hernia Progressive sensorineural hearing impairment Osteoporosis Prematurely aged appearance Redundant skin Rod-cone dystrophy Elevated levels of phytanic acid Hypoglycemic coma Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Personality disorder Ethylmalonic aciduria Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Reye syndrome-like episodes Hypersarcosinemia Hyperoxaluria Ichthyosis Short fourth metatarsal Abnormal renal physiology Miosis Multiple epiphyseal dysplasia Increased CSF protein Epiphyseal stippling Anosmia Sensorimotor neuropathy Pigmentary retinopathy Sensory impairment Polyneuropathy Retinal degeneration Nyctalopia Fatigable weakness of distal limb muscles Vascular tortuosity Pes cavus Hyporeflexia Blindness Peripheral neuropathy Ventricular septal defect Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Dermal translucency Subependymal giant-cell astrocytoma Congenital hemolytic anemia Anteverted nares Blepharophimosis Wide mouth Deeply set eye Gastroesophageal reflux Micropenis Polydactyly Obesity Midface retrusion Recurrent infections Immunodeficiency Short nose Myopia Broad forehead Scoliosis Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Coloboma Smooth philtrum Aspiration pneumonia Unilateral renal agenesis Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Anophthalmia Flat face Language impairment Hand polydactyly Pyloric stenosis Aortic regurgitation Microretrognathia Narrow palpebral fissure Hemivertebrae Pointed chin Short toe Psychosis Renal agenesis Small hand Undetectable electroretinogram Adrenal hypoplasia Supravalvular aortic stenosis Macule Confetti-like hypopigmented macules Retinal hamartoma Macrodactyly Third degree atrioventricular block Abnormality of the pleura Rhabdomyosarcoma Abnormality of the pancreas Gingivitis Neoplasm of the pancreas Nevus flammeus Multiple cafe-au-lait spots Prominent occiput Visual impairment Abnormality of neuronal migration Atrioventricular block Increased intracranial pressure Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Bradycardia Iris coloboma Papule Anxiety Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Organic aciduria Epicanthus Scaphocephaly Abdominal distention Primary adrenal insufficiency Thoracic hypoplasia Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Aspiration Large fontanelles Split hand Peripheral demyelination Progressive visual loss Ascites Skeletal muscle atrophy Dolichocephaly Severe global developmental delay Osteopenia Upslanted palpebral fissure Pneumonia Delayed skeletal maturation Visual loss Long philtrum Cerebellar atrophy Hypoplasia of the corpus callosum Talipes equinovarus Frontal bossing Exercise-induced myalgia Absence of renal corticomedullary differentiation Chronic fatigue Cystic renal dysplasia Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Hypothermia Intracerebral periventricular calcifications Heart block Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Overfolded helix Ventricular arrhythmia Narrow palate Multicystic kidney dysplasia Elbow flexion contracture Sloping forehead Wide intermamillary distance Tapered toe Antenatal intracerebral hemorrhage Bulbous nose Proptosis Premature birth Falls Cleft upper lip Hypotrichosis Finger syndactyly Corneal opacity Prominent nasal bridge Sparse hair Craniosynostosis Paralysis Postnatal growth retardation Brachycephaly Decreased plasma total carnitine Clinodactyly of the 5th finger Clinodactyly Thrombocytopenia Abnormality of cardiovascular system morphology Downslanted palpebral fissures Brachydactyly Scarring Stage 5 chronic kidney disease Short stature Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Dehydration Hepatic failure Myocardial infarction Tubulointerstitial fibrosis Congenital hepatic fibrosis Focal-onset seizure Brain atrophy Nevus Pancreatic cysts Hypopigmentation of the skin Sleep disturbance Retinal detachment Hepatic cysts Cough Stroke Skin rash Hypoplasia of dental enamel Irritability Intellectual disability, moderate Carcinoma Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Potter facies Hydrocephalus Periportal fibrosis Hypoplasia of the ear cartilage Cholangitis Tachypnea Abnormality of the foot Chronic lung disease Apnea Hydronephrosis Depressed nasal ridge Prominent forehead Abnormal lung morphology Agenesis of corpus callosum Hepatic fibrosis Renal hypoplasia/aplasia Hyperreflexia Chronic kidney disease Portal hypertension Esophageal varix CNS hypomyelination Projection of scalp hair onto lateral cheek Connective tissue nevi Premature chromatid separation Flank pain Fibroma Brain neoplasm White hair Renal neoplasm Generalized hypopigmentation Hyperventilation Nephroblastoma Blue sclerae Hemiparesis Excessive daytime somnolence Lactic acidosis Decreased liver function Wide anterior fontanel Anorexia Left ventricular hypertrophy Abnormality of the genital system Tetraparesis Waddling gait Increased serum lactate Generalized muscle weakness Tetraplegia Muscle cramps Azotemia Cardiac arrest Nausea and vomiting Congenital cataract Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Telecanthus Myalgia Proximal muscle weakness Difficulty walking Jaundice Weight loss Clonus Type I diabetes mellitus Areflexia Restrictive ventilatory defect Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Difficulty climbing stairs Ventricular fibrillation Exercise intolerance Stridor Hemiplegia Back pain Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Spastic tetraparesis Pancreatitis Scapular winging Gait ataxia Encephalopathy Bowing of the long bones Short femoral neck Fair hair Low hanging columella Capillary hemangioma Upper limb undergrowth External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Radial deviation of finger Patellar aplasia Proximal placement of thumb Clitoral hypertrophy Radioulnar synostosis Hypoplasia of the radius Melanoma Hemangioma Sandal gap Opacification of the corneal stroma Bilateral single transverse palmar creases Aortic valve stenosis Short thumb Abnormality of the upper limb Subvalvular aortic stenosis Depressivity Muscle weakness Diarrhea Myopathy Edema Dysphagia Gait disturbance Tremor Splenomegaly Fever Dysarthria Spasticity Hepatosplenomegaly Low-set, posteriorly rotated ears Long penis Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Absent nasal bridge



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