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:
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
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
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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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
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
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
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
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
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
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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