Cardiomyopathy, and Syndactyly

Diseases related with Cardiomyopathy and Syndactyly

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Syndactyly 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 JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

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 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 TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Patent ductus arteriosus Failure to thrive Abnormal facial shape Toe syndactyly Short stature Specific learning disability Growth delay Milia Global developmental delay Anemia Osteoporosis Carious teeth Mitten deformity Cardiomegaly Brachydactyly Arrhythmia Alopecia

Rare Symptoms - Less than 30% cases


Cryptorchidism Short finger Optic nerve hypoplasia Hypocalcemia Immunodeficiency Finger syndactyly Hypoglycemia Hypothyroidism Autism Polydactyly Severe short stature Delayed skeletal maturation Pneumonia Torsade de pointes Abnormality of the dentition Seizures Esophageal stricture Squamous cell carcinoma of the skin Ankyloglossia Atrophic scars Pyloric stenosis Intellectual disability, mild Dehydration Abnormal blistering of the skin Neoplasm Dysphagia Ventricular tachycardia Low-set ears Cardiac arrest Syncope Flexion contracture Hypoplasia of the maxilla Sinusitis Dolichocephaly Thin upper lip vermilion Clinodactyly of the 5th finger Depressivity Malar flattening Cognitive impairment Micrognathia Constipation Generalized hypotonia Depressed nasal bridge Squamous cell carcinoma Ventricular arrhythmia Wide nasal bridge Prominent forehead Abnormality of the face 2-3 toe syndactyly Hypertrichosis Hypertrophic cardiomyopathy Prolonged QT interval Osteopenia Nail dysplasia Sudden cardiac death Abnormal atrioventricular conduction Bicuspid aortic valve Respiratory failure Cutaneous syndactyly Abnormal heart morphology Aplasia cutis congenita Finger clinodactyly Cutaneous finger syndactyly Perimembranous ventricular septal defect Scarring Skin erosion Ventricular septal defect Skin vesicle Hypotrichosis Hypertension Ventricular hypertrophy Short palm Nail dystrophy Limb muscle weakness Narrow mouth Myopathy Fragile skin IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Acute leukemia Myeloid leukemia Curly eyelashes Telangiectasia of the skin Hypoplasia of the zygomatic bone Low posterior hairline Chromosome breakage IgM deficiency Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability Abnormality of the nose Large sella turcica Chronic obstructive pulmonary disease Esodeviation Chronic lung disease Generalized hypertrichosis Deep plantar creases Hypoplastic pelvis Pulmonary fibrosis Sacral dimple Concentric hypertrophic cardiomyopathy Erythema Lymphoma Ichthyosis Infertility Leukemia Broad first metatarsal Skin rash Protruding ear Prominent nose Postnatal growth retardation Diabetes mellitus Hyperhidrosis Recurrent respiratory infections Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Decreased antibody level in blood Abnormality of the skin High pitched voice Narrow face Hand polydactyly Reduced number of teeth Hypopigmented skin patches Erlenmeyer flask deformity of the femurs Facial telangiectasia in butterfly midface distribution Azoospermia Cafe-au-lait spot Otitis media Telangiectasia Bronchiectasis Congenital, generalized hypertrichosis Bilateral coxa valga Cuboid-shaped vertebral bodies Cutaneous photosensitivity Type II diabetes mellitus Agenesis of maxillary lateral incisor Myopia Broad hallux phalanx Elevated alkaline phosphatase Skeletal dysplasia Long philtrum Short neck Anteverted nares Abnormality of the skeletal system Macrocephaly Epicanthus Prominent supraorbital ridges Metaphyseal widening Large for gestational age Delayed speech and language development Strabismus Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Coarse facial features Accelerated skeletal maturation Frontal balding Thick eyebrow Thick lower lip vermilion Abnormality of the metaphysis Thick vermilion border Short distal phalanx of finger Long eyelashes Gingival overgrowth Lymphedema Coxa valga Low anterior hairline Generalized hirsutism Narrow chest Platyspondyly Wide mouth Anxiety Umbilical hernia Flared metaphysis Biventricular hypertrophy Muscular hypotonia Thickened calvaria Joint hypermobility Abnormal heart valve morphology Hip dislocation Thin ribs Abnormal cardiac septum morphology Autistic behavior Gastroesophageal reflux Round face Short hallux Encephalopathy Abnormality of cardiovascular system morphology Behavioral abnormality Ovoid vertebral bodies Thick upper lip vermilion Broad ribs Coma Esotropia Broad hallux Multiple joint contractures Cutaneous syndactyly of toes Hypothermia Pericardial effusion Amelogenesis imperfecta Protruding tongue Bronchitis Mixed hearing impairment Ventricular fibrillation Microdontia Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Abnormality of dental enamel Bradycardia Pulmonary arterial hypertension Tetralogy of Fallot Abnormality of dental color Muscle weakness Short nose Visual impairment Micropenis Agenesis of corpus callosum Obesity Hypoplasia of the corpus callosum Talipes equinovarus Fever Nystagmus Severe global developmental delay Junctional split Congenital localized absence of skin Laryngeal stridor Paronychia Laryngeal stenosis Onycholysis Recurrent skin infections Abnormality of the eye Abnormality of eye movement Sepsis Severe vision loss Hemianopia Cavum septum pellucidum Colpocephaly Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Hypopituitarism Talipes Absent septum pellucidum Diabetes insipidus Precocious puberty Cerebral palsy Exercise intolerance Heterotopia Growth hormone deficiency Hoarse voice Dyspnea Optic disc hypoplasia Anonychia Phimosis Oral mucosal blisters Acantholysis Alopecia universalis Alopecia totalis Natal tooth Sandal gap Tapered distal phalanges of finger Abnormality of the nail 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 Esophageal ulceration Widely spaced toes Respiratory insufficiency Gastritis Feeding difficulties Carotid artery stenosis Renovascular hypertension Renal artery stenosis Coronary artery stenosis Intellectual disability, borderline Arterial stenosis Increased susceptibility to fractures Pain Aortic regurgitation Decreased body weight Recurrent fractures Pulmonic stenosis Abdominal pain Dilatation Renal insufficiency Anterior pituitary hypoplasia Ectopic posterior pituitary Diarrhea Scapular winging Myotonia Short metatarsal Growth abnormality Oligodontia Reduced tendon reflexes Abnormal palate morphology Bilateral single transverse palmar creases Ventricular extrasystoles Short phalanx of finger Palpitations Febrile seizures Short metacarpal Broad nasal tip Triangular face Small hand Right bundle branch block Left bundle branch block Wide nose Effort-induced polymorphic ventricular tachycardias Intrauterine growth retardation Microcephaly Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Periodic hypokalemic paresis T-wave inversion Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave High, narrow palate Bulbous nose Septo-optic dysplasia Delayed puberty Hypoalbuminemia Dermal atrophy Neoplasm of the skin Conjunctivitis Joint contracture of the hand Progressive visual loss Pruritus Malnutrition Carcinoma Visual loss Cataract Decreased circulating follicle stimulating hormone level Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Ectropion Blepharitis Thin vermilion border Esophageal stenosis Broad forehead Joint laxity Retrognathia Elevated serum creatine phosphokinase Cleft palate Scoliosis Spontaneous esophageal perforation Loss of eyelashes Atypical scarring of skin Refractory anemia Absent fingernail Abnormality of the anus Absent toenail Scarring alopecia of scalp Corneal scarring Corneal erosion Widened posterior fossa



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