Cardiomyopathy, and Clinodactyly of the 5th finger
Diseases related with Cardiomyopathy and Clinodactyly of the 5th finger
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.
Top matches:
Medium match PENOSCROTAL TRANSPOSITION
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm
Related symptoms:
- Intellectual disability
- Neoplasm
- Micrognathia
- Cryptorchidism
- Epicanthus
SOURCES: OMIM ORPHANET MENDELIAN
More info about PENOSCROTAL TRANSPOSITIONMedium match ANDERSEN-TAWIL SYNDROME
Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Micrognathia
- Abnormal facial shape
More info about ANDERSEN-TAWIL SYNDROME
Medium match ARTERIAL TORTUOSITY SYNDROME
Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
ARTERIAL TORTUOSITY SYNDROME Is also known as ats
Related symptoms:
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Strabismus
More info about ARTERIAL TORTUOSITY SYNDROME
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Other less relevant matches:
Medium match BLOOM SYNDROME
Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1
Related symptoms:
- Short stature
- Microcephaly
- Growth delay
- Neoplasm
- Failure to thrive
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about BLOOM SYNDROMEMedium match ROIFMAN SYNDROME
Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.
ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about ROIFMAN SYNDROMEMedium match JOHANSON-BLIZZARD SYNDROME
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about JOHANSON-BLIZZARD SYNDROMEMedium match NOONAN SYNDROME
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
More info about NOONAN SYNDROME
Medium match COHEN SYNDROME; COH1
Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).
COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about COHEN SYNDROME; COH1
Medium match FANCONI ANEMIA
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES: OMIM ORPHANET MENDELIAN
More info about FANCONI ANEMIAMedium match SIMPSON-GOLABI-BEHMEL SYNDROME
Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about SIMPSON-GOLABI-BEHMEL SYNDROMETop 5 symptoms//phenotypes associated to Cardiomyopathy and Clinodactyly of the 5th finger
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
| Cryptorchidism | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Postnatal growth retardation | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Cardiomyopathy and Clinodactyly of the 5th finger. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Muscular hypotonia
Uncommon Symptoms - Between 30% and 50% cases
Abnormal facial shape
Common Symptoms - More than 50% cases
Global developmental delay
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis
Common Symptoms - More than 50% cases
Hypertelorism
Uncommon Symptoms - Between 30% and 50% cases
Growth delay Intrauterine growth retardation Failure to thrive Strabismus Hearing impairment Microcephaly Ventricular septal defect Hepatomegaly Fatigue High, narrow palate Diabetes mellitus Finger syndactyly Short nose Malar flattening Downslanted palpebral fissures Cafe-au-lait spot Abnormality of the genital system Epicanthus Hypospadias Hypothyroidism Abnormality of cardiovascular system morphology Generalized hypotonia Atrial septal defect Neoplasm Hypertension Gastroesophageal reflux Myopia Dilatation Cardiac arrest Macrocephaly Joint hyperflexibility Specific learning disability Short metacarpal Respiratory distress Hypertrophic cardiomyopathy Pectus excavatum Neurological speech impairment Edema Small for gestational age Hydronephrosis Upslanted palpebral fissure Abnormal heart morphology Sensorineural hearing impairment Hydroureter Single transverse palmar crease Hypogonadism Nystagmus Proptosis Ptosis High palate Otitis media Thrombocytopenia Severe short stature Patent ductus arteriosus Delayed skeletal maturation Abnormality of the dentition Anemia Hypoplasia of the maxilla Thick vermilion border Obesity Syndactyly Cleft palate Inguinal hernia Cataract Thin upper lip vermilion Dilated cardiomyopathy Brachydactyly Hernia Dolichocephaly Abnormality of the skeletal system Toe syndactyly Clinodactyly Arrhythmia Joint laxity
Rare Symptoms - Less than 30% cases
Microphthalmia Lymphoma Talipes equinovarus Prominent nose Growth hormone deficiency Telangiectasia Blindness Sinusitis Leukemia Azoospermia Hypopigmented skin patches Reduced number of teeth Short neck Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Wide mouth Feeding difficulties in infancy Low-set, posteriorly rotated ears Coarse facial features Kyphoscoliosis Polyhydramnios Meckel diverticulum Abnormal carotid artery morphology Penoscrotal hypospadias Protruding ear Intellectual disability, mild Immunodeficiency Recurrent infections Pneumonia Pes planus Mandibular prognathia Thin vermilion border Squamous cell carcinoma Furrowed tongue Myeloid leukemia Seizures Facial asymmetry Irritability Renal agenesis Wide intermamillary distance Intellectual disability, severe Pectus carinatum Micropenis Cleft lip Pleural effusion Abnormality of the liver Abnormal cardiac septum morphology Umbilical hernia Anal atresia Hypoplasia of penis Hydrocephalus Intestinal malrotation Prominent eyelashes Visual impairment Acute myeloid leukemia Bilateral single transverse palmar creases Acute leukemia Chromosome breakage Abnormality of chromosome stability Pulmonic stenosis Depressed nasal bridge Growth abnormality Anteverted nares Splenomegaly Narrow palpebral fissure Long philtrum Agenesis of corpus callosum Hepatosplenomegaly Downturned corners of mouth Retinal dystrophy Renal dysplasia Underdeveloped nasal alae Short toe Penoscrotal transposition Polydactyly Delayed puberty Neutropenia Macrotia Cognitive impairment Congestive heart failure Retrognathia Abnormality of the urinary system Radioulnar synostosis Hiatus hernia Failure to thrive in infancy Clumsiness Short digit Cubitus valgus Abnormality of digit Thoracic scoliosis Prolonged QT interval Short metatarsal Hip dislocation Oligodontia Retinal detachment Abnormality of the testis Abnormality of the helix Scapular winging Abnormality of skin pigmentation Broad forehead Aplasia/Hypoplasia of the abdominal wall musculature Astigmatism Broad nasal tip Triangular face Small hand Wide nose Short palm Preauricular skin tag Tall stature Bruising susceptibility Telangiectasia of the skin Leukopenia Mitral valve prolapse Pulmonary artery stenosis Tetralogy of Fallot Webbed neck Aortic root aneurysm Joint hypermobility Short palpebral fissure Dental malocclusion Arachnodactyly Convex nasal ridge Cerebellar hypoplasia Hemeralopia Microcornea Intracranial hemorrhage Narrow palm Narrow philtrum Arthritis Hyperplasia of the maxilla Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis High-pitched cry Congenital neutropenia Granulocytopenia Aciduria Bull's eye maculopathy Progressive visual loss Pigmentary retinopathy Chorioretinal dysplasia Intellectual disability, moderate Thick corpus callosum Thick eyebrow Smooth philtrum Precocious puberty Frontal bossing Fever Hyperreflexia Nyctalopia Retinal degeneration Ataxia Laryngomalacia Slender toe Macrodontia of permanent maxillary central incisor Iris coloboma Retinopathy Paralysis Respiratory tract infection Highly arched eyebrow Cat cry Iris atrophy Tapered finger Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia Motor delay Narrow forehead Prominent nasal bridge Gingival overgrowth Weak cry Celiac disease Intellectual disability, progressive Narrow nasal bridge Synophrys Severe global developmental delay Abnormality of the hip bone Rod-cone dystrophy Truncal obesity Abnormality of retinal pigmentation Subcapsular cataract Behavioral abnormality Disproportionate tall stature Kyphosis Progressive microcephaly Cerebral hemorrhage Visual loss Abnormality of dental morphology Stroke Constriction of peripheral visual field Short philtrum Rheumatoid arthritis Exotropia Peripheral visual field loss Low anterior hairline Aplasia/Hypoplasia of the earlobes Decreased fetal movement High myopia Lumbar hyperlordosis Thick hair Recurrent skin infections Open mouth Neonatal hypotonia Venous thrombosis Optic atrophy Tapetoretinal degeneration Recurrent aphthous stomatitis Abnormality of the larynx Posterior subcapsular cataract Bone spicule pigmentation of the retina Macular edema Sandal gap Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Reduced visual acuity Gingivitis Long eyelashes Genu valgum Absent thumb Ventriculomegaly Multicystic kidney dysplasia Cerebellar vermis hypoplasia Omphalocele Broad thumb Cerebral visual impairment Hoarse voice Congenital hip dislocation Accelerated skeletal maturation Abnormality of the ribs Relative macrocephaly Abnormality of the hand Abnormality of the voice Nephroblastoma Cupped ear Preauricular pit Large for gestational age Small nail Congenital diaphragmatic hernia Bundle branch block Short distal phalanx of finger Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Wide nasal bridge Hypoglycemia Camptodactyly of finger Congenital cataract Cleft upper lip Postaxial polydactyly Postaxial hand polydactyly Short foot Renal cyst Macroglossia Bifid uvula Nail dysplasia Dandy-Walker malformation Overgrowth Bilateral talipes equinovarus Supernumerary nipple Aplasia/Hypoplasia of the uvula Narrow sacroiliac notch Embryonal neoplasm Broad toe Short 2nd finger Short sacroiliac notch Posterior helix pit 2-3 finger syndactyly Broad secondary alveolar ridge Cervical ribs Nephroblastomatosis Birth length greater than 97th percentile Duplication of renal pelvis Six lumbar vertebrae Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Hepatoblastoma Pancreatic islet-cell hyperplasia Vertebral segmentation defect Low hanging columella Vertebral fusion Broad palm Transposition of the great arteries Neuroblastoma Abnormal lung lobation Enlarged kidney Broad foot Polysplenia Chordee Diastasis recti Duodenal atresia Renal neoplasm Flared iliac wings Ureteral duplication Ankyloglossia Increased IgE level Aplasia/Hypoplasia of fingers Neoplasm of head and neck Renal insufficiency Hyperinsulinemia Horseshoe kidney Type I diabetes mellitus Cranial nerve paralysis Renal hypoplasia/aplasia Reduced bone mineral density Abnormality of vision Myelodysplasia Hypergonadotropic hypogonadism Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Hypoplasia of the ulna Ectopic kidney Prominent digit pad Multiple cafe-au-lait spots Bone marrow hypocellularity Spina bifida Absent radius Hypopigmentation of the skin Headache Weight loss Carcinoma Abnormality of the eye Abnormality of the kidney Abnormality of the foot Vertigo Sloping forehead Abnormal vertebral morphology Oligohydramnios Pancytopenia Choanal atresia Aganglionic megacolon Recurrent urinary tract infections Short thumb Insulin resistance Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the radius Deficient excision of UV-induced pyrimidine dimers in DNA Clubbing of toes Primary hypothyroidism Duodenal stenosis Duplicated collecting system Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Partial duplication of thumb phalanx Decreased fertility in males Abnormal aortic morphology Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Anemic pallor Abnormality of nervous system morphology Reticulocytopenia Irregular hyperpigmentation Aplastic anemia External ear malformation Hearing abnormality Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation B-cell lymphoma Abnormality of the upper limb Abnormality of the uterus Abnormal localization of kidney Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormality of the vestibular nerve High forehead Aplasia of lymphatic vessels Arterial stenosis Abnormality of the skin Decreased antibody level in blood Ichthyosis Infertility Skin rash Erythema Hyperhidrosis Recurrent respiratory infections Diarrhea Abnormality of the zygomatic bone Keratoglobus Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Cutaneous photosensitivity Aortic aneurysm Thin skin Coxa valga Coxa vara Hyperextensible skin Redundant skin Pyloric stenosis Rocker bottom foot Abnormal myocardium morphology Keratoconus Prematurely aged appearance Cardiorespiratory arrest Aortic dissection Esophagitis Myocarditis Type II diabetes mellitus Hypertrichosis Hip dysplasia Female infertility Recurrent pneumonia Meningitis Recurrent otitis media Cardiomegaly Eczema Premature birth Tachycardia Lymphadenopathy Vomiting Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Decreased fertility in females Abnormality of the face IgA deficiency Bronchiectasis Narrow face Sacral dimple Hand polydactyly High pitched voice Pulmonary fibrosis Hodgkin lymphoma IgM deficiency IgG deficiency Hypoplasia of the zygomatic bone Hypoplastic pelvis Chronic lung disease Chronic obstructive pulmonary disease Abnormality of the nose Myocardial infarction Long face Tachypnea Pseudohypoparathyroidism Limb muscle weakness Elevated serum creatine phosphokinase Depressivity Low-set ears Scrotal hypospadias Incomplete male pseudohermaphroditism Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Abnormality of the urethra Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Aplasia of the uterus Sudden cardiac death Prominent occiput Cerebral cortical atrophy Ambiguous genitalia Primary amenorrhea Gynecomastia Bifid scrotum Diabetes insipidus Abnormality of the ureter Menstrual irregularities Shawl scrotum Male pseudohermaphroditism Sparse axillary hair Sparse pubic hair Labial hypoplasia Patellar aplasia Bulbous nose Syncope Blepharophimosis Muscle fiber tubular inclusions Delayed eruption of permanent teeth First degree atrioventricular block Clinodactyly of the 5th toe Short mandibular rami Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Antegonial notching of mandible Abnormal T-wave Bidirectional ventricular ectopy Prominent frontal sinuses Aplasia/Hypoplasia of the maxilla Respiratory failure Dyspnea Craniosynostosis Periodic paralysis Abnormal atrioventricular conduction Febrile seizures Ventricular arrhythmia Palpitations Hypoplasia of dental enamel Short phalanx of finger Ventricular tachycardia Abnormal palate morphology Reduced tendon reflexes Myotonia Torsade de pointes 2-3 toe syndactyly Right bundle branch block Short finger Ventricular extrasystoles Left bundle branch block T-wave inversion Finger clinodactyly Eosinophilia Abnormal atrial septum morphology Melanocytic nevus Redundant neck skin Abnormality of refraction High anterior hairline Premature skin wrinkling Thickened nuchal skin fold Abnormality of the mouth Acute lymphoblastic leukemia Curly hair Male infertility Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Abnormality of the thorax Abnormal mitral valve morphology Decreased body weight Sparse hair Abnormal bleeding Coarctation of aorta Low posterior hairline Thick lower lip vermilion Mitral regurgitation Amblyopia Bilateral ptosis Lymphedema Aortic valve stenosis Hypogonadotrophic hypogonadism Abnormal dermatoglyphics Arnold-Chiari malformation Coarse hair Abnormality of the spleen Thickened helices Midface retrusion Puberty and gonadal disorders Reduced factor XII activity Hyperkeratosis pilaris Superior pectus carinatum Prominent nasolabial fold Amegakaryocytic thrombocytopenia Neurofibrosarcoma Abnormal location of ears Abnormal platelet function Hypoplasia of lymphatic vessels Aplasia of the semicircular canal Morphological abnormality of the inner ear Abnormal nipple morphology Abnormal anterior segment morphology Abnormal lymphatic vessel morphology Reduced factor XI activity Pulmonary lymphangiectasia Shield chest Abnormality of the lymphatic system Myeloproliferative disorder Abnormality of the pulmonary artery Enlarged thorax Abnormal hair quantity Synovitis Chylothorax Multiple lentigines Reduced factor VIII activity Prolonged QRS complex Abnormality of the mandible Intestinal lymphangiectasia Unilateral ptosis Prominent fingertip pads Abnormal pulmonary valve morphology Constipation Dysphagia Spondyloepiphyseal dysplasia Abdominal distention Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Abnormality of the nail Situs inversus totalis Cholestasis Sparse scalp hair Microdontia Generalized muscle weakness Delayed eruption of teeth Dextrocardia Humoral immunodeficiency Partial agenesis of the corpus callosum Long palpebral fissure Hip contracture Irregular vertebral endplates Narrow nose Pulmonary edema Noncompaction cardiomyopathy Hepatic failure Irregular femoral epiphysis Biconvex vertebral bodies Alopecia Elevated hepatic transaminase Hypotrichosis Malabsorption Congenital sensorineural hearing impairment Steatorrhea Dysarthria Anasarca Uterus didelphys Abnormality of the nares Colonic diverticula Increased VLDL cholesterol concentration Absent lacrimal punctum Septate vagina Malrotation of small bowel Skin dimples Abnormality of the female genitalia Urethrovaginal fistula Hypoplasia of the primary teeth Midline skin dimples over anterior/posterior fontanelles Muscle weakness Feeding difficulties Frontal upsweep of hair Aplasia cutis congenita of scalp Agenesis of permanent teeth Exocrine pancreatic insufficiency Glycosuria Anteriorly placed anus Hypopituitarism Hypoplastic nipples Facial cleft Anal stenosis Fair hair Abnormal vagina morphology Calvarial skull defect Abnormal hair pattern Hypoproteinemia Rectovaginal fistula Abnormality of the pancreas Lacrimation abnormality Two carpal ossification centers present at birth
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