Cardiomyopathy, and Clinodactyly

Diseases related with Cardiomyopathy and Clinodactyly

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Clinodactyly that can help you solving undiagnosed cases.


Top matches:

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA


Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA Is also known as lethal acantholytic epidermolysis bullosa|laeb

Related symptoms:

  • Cardiomyopathy
  • Syndactyly
  • Clinodactyly
  • Alopecia
  • Respiratory failure


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

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Other less relevant matches:

Low 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 TRANSPOSITION

Low match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Low 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


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Low 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


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low 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 SYNDROME

Low match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Clinodactyly

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Dilatation Hypertelorism Scoliosis Specific learning disability Clinodactyly of the 5th finger Short stature Intrauterine growth retardation Low-set ears Cleft palate Short neck Malar flattening Cryptorchidism Dilated cardiomyopathy High palate Ptosis Short nose Short palm Respiratory failure Growth delay Global developmental delay Thin upper lip vermilion Hypertension

Rare Symptoms - Less than 30% cases


Anteverted nares Muscle weakness Hirsutism Downturned corners of mouth Full cheeks Proximal placement of thumb Growth abnormality Bilateral single transverse palmar creases Wide intermamillary distance Inguinal hernia Hypospadias Hernia Abnormality of the genital system Downslanted palpebral fissures Generalized hypotonia Postnatal growth retardation Short palpebral fissure Blepharophimosis Hypertrophic cardiomyopathy Gastroesophageal reflux Respiratory distress Muscular hypotonia Flexion contracture Recurrent respiratory infections Cardiac arrest Feeding difficulties Febrile seizures Small hand Thin vermilion border Dolichocephaly Retrognathia Cognitive impairment Bulbous nose Arterial stenosis Neoplasm Telangiectasia of the skin Decreased body weight Pulmonic stenosis Abnormal atrioventricular conduction Aortic regurgitation Limb muscle weakness Myopathy Ventricular septal defect Arrhythmia Ventricular hypertrophy Failure to thrive Finger clinodactyly Abnormal heart morphology Patent ductus arteriosus Abnormality of the face Bronchiectasis Cutaneous photosensitivity Hypertrichosis Vomiting Type II diabetes mellitus Otitis media Abnormality of the skin Prominent nose Decreased antibody level in blood Lymphoma Ichthyosis Infertility Leukemia Finger syndactyly Telangiectasia Pierre-Robin sequence Cafe-au-lait spot High pitched voice Tracheomalacia IgA deficiency Acute myeloid leukemia Myeloid leukemia Double outlet right ventricle Pulmonary fibrosis Squamous cell carcinoma Sinusitis Hand polydactyly Reduced number of teeth Hypopigmented skin patches Sacral dimple Azoospermia Narrow face Erythema Skin rash Severe short stature Protruding ear Avascular necrosis of the capital femoral epiphysis Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Abnormal myocardium morphology Anotia Myocarditis Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Bronchomalacia Anemia Tracheal stenosis Delayed skeletal maturation Polydactyly Diabetes mellitus Hyperhidrosis IgG deficiency Cleft soft palate Pneumonia Abnormality of the larynx Recurrent infections Extramedullary hematopoiesis Redundant neck skin Immunodeficiency Entropion Intellectual disability, mild Abnormality of the dentition Diarrhea Endocardial fibroelastosis Hodgkin lymphoma Bilateral cryptorchidism Anteriorly placed anus Esotropia Widely spaced teeth Holoprosencephaly Low anterior hairline Long eyelashes Mitral regurgitation Mitral valve prolapse Narrow forehead Narrow chest Cutis marmorata Short foot Highly arched eyebrow Postural instability Thick eyebrow Smooth philtrum Poor speech Synophrys Abnormal cardiac septum morphology Prominent metopic ridge Coloboma Delayed speech and language development Hydrocephalus Hypoplasia of the corpus callosum Dysphagia Depressed nasal bridge Abnormality of cardiovascular system morphology Cerebellar hypoplasia Agenesis of corpus callosum Polyhydramnios Enlarged cisterna magna Hearing impairment Telecanthus Skull asymmetry Curly eyelashes Semilobar holoprosencephaly Abnormality of the pinna Limited elbow movement Hemihypertrophy Prominent nasal bridge Sparse hair Acute leukemia Abnormality of the nose Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Chronic obstructive pulmonary disease Facial telangiectasia in butterfly midface distribution Chronic lung disease Hypoplastic pelvis Chromosome breakage Neonatal respiratory distress Atrial septal defect Hypoplastic left heart Hypoplasia of the zygomatic bone Agenesis of maxillary lateral incisor Abnormality of the genitourinary system Respiratory tract infection Small nail Deeply set eye EEG abnormality Prematurely aged appearance Absent speech Abdominal distention Intestinal malrotation Oligohydramnios Cerebellar vermis hypoplasia Seizures Pachygyria Large fontanelles Wide anterior fontanel Ventriculomegaly Narrow palpebral fissure Sparse eyelashes Spasticity Microretrognathia Brachycephaly Bidirectional ventricular ectopy Keratoconus Renal dysplasia Male pseudohermaphroditism Shawl scrotum Abnormality of the ureter Prominent occiput Diabetes insipidus Bifid scrotum Gynecomastia Primary amenorrhea Sparse pubic hair Ambiguous genitalia Renal agenesis Pectus carinatum Micropenis Cerebral cortical atrophy Obesity Epicanthus Carotid artery stenosis Sparse axillary hair Labial hypoplasia Renal artery stenosis Penoscrotal hypospadias Scrotal hypospadias Incomplete male pseudohermaphroditism Penoscrotal transposition Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Abnormality of the urethra Elevated circulating follicle stimulating hormone level Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Pseudohypoparathyroidism Elevated circulating luteinizing hormone level Aplasia of the uterus Menstrual irregularities Patellar aplasia Renovascular hypertension Coronary artery stenosis Long philtrum Cardiomegaly Natal tooth Fragile skin Skin vesicle Milia Anonychia Sandal gap Abnormality of the nail Hypotrichosis Alopecia totalis Scarring Alopecia Abnormal electrophysiology of sinoatrial node origin Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Upper limb muscle weakness Abnormality of the foot Aplasia cutis congenita Alopecia universalis Intellectual disability, borderline Abdominal pain Gastritis Perimembranous ventricular septal defect Cutaneous finger syndactyly Increased susceptibility to fractures Bicuspid aortic valve Cutaneous syndactyly Recurrent fractures Renal insufficiency Skin erosion Pain Widely spaced toes Tapered distal phalanges of finger Mitten deformity Esophageal ulceration Phimosis Oral mucosal blisters Acantholysis Motor delay Pectus excavatum Rocker bottom foot Short digit Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Clinodactyly of the 5th toe Myopia First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Strabismus Macrocephaly Prolonged QT interval Myocardial infarction Aortic aneurysm Pyloric stenosis Redundant skin Hyperextensible skin Coxa vara Coxa valga Thin skin Hip dysplasia Fatigue Long face Arachnodactyly Joint hyperflexibility Hip dislocation Craniosynostosis Macrotia Dyspnea Congestive heart failure Short finger Right bundle branch block Falls Nemaline bodies Joint laxity Elevated serum creatine phosphokinase Depressivity Limitation of neck motion Cervical C2/C3 vertebral fusion Acetabular dysplasia Fused cervical vertebrae Thoracolumbar scoliosis Toe syndactyly Centrally nucleated skeletal muscle fibers Mild short stature Bilateral ptosis Frequent falls Low posterior hairline Underdeveloped nasal alae Webbed neck Everted lower lip vermilion Broad forehead Wide nose 2-3 toe syndactyly Scapular winging Myotonia Short metatarsal Ventricular arrhythmia Oligodontia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Short phalanx of finger High, narrow palate Hypoplasia of dental enamel Palpitations Short metacarpal Syncope Sudden cardiac death Broad nasal tip Triangular face Hypoplasia of the maxilla Laryngeal hypoplasia



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