Cardiomyopathy, and Brachydactyly

Diseases related with Cardiomyopathy and Brachydactyly

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Brachydactyly 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 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

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

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Other less relevant matches:

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 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

Low 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 SYNDROME

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Brachydactyly

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Downslanted palpebral fissures Ventricular septal defect Patent ductus arteriosus Retrognathia Syndactyly Micrognathia Ventricular hypertrophy Generalized hypotonia Short stature Cleft palate Dilatation Short neck Intrauterine growth retardation Hypertelorism Hearing impairment Thin vermilion border Microcephaly High palate Scoliosis Thin upper lip vermilion Aortic regurgitation Cryptorchidism Seizures Small nail Hydrocephalus Low-set ears Hirsutism Hernia Vomiting Downturned corners of mouth Failure to thrive Postnatal growth retardation Ptosis Abnormality of cardiovascular system morphology Hypertrophic cardiomyopathy Umbilical hernia Pulmonic stenosis Short palm Muscular hypotonia

Rare Symptoms - Less than 30% cases


Cognitive impairment Posteriorly rotated ears Protruding tongue Congestive heart failure Full cheeks Skull asymmetry Small hand Narrow palpebral fissure Delayed speech and language development Ventricular extrasystoles Agenesis of corpus callosum Right bundle branch block Eczema Polyhydramnios Atrial septal defect Growth abnormality Thick lower lip vermilion Abnormal palate morphology Short digit Cardiac arrest Palpitations Clinodactyly of the 5th finger Febrile seizures Short metacarpal Syncope Sudden cardiac death Joint hypermobility Failure to thrive in infancy High, narrow palate Macrotia Bulbous nose Dolichocephaly Broad forehead Cutis marmorata Short nose Enlarged cisterna magna Hepatomegaly Gastroesophageal reflux Thick eyebrow Abnormal atrioventricular conduction Hepatosplenomegaly Macrocephaly Sparse hair Fatigue Limb muscle weakness Finger clinodactyly Decreased body weight Specific learning disability Mitral regurgitation Abnormal heart morphology Mitral valve prolapse Splenomegaly Proximal placement of thumb Redundant neck skin Hypertension Dilated cardiomyopathy Left ventricular hypertrophy Dandy-Walker malformation Macroglossia Strabismus Wide mouth Coarse facial features Feeding difficulties Absent speech Long philtrum Hypoplasia of the corpus callosum Wide nasal bridge Sensorineural hearing impairment Wide intermamillary distance Ventriculomegaly Prominent eyelashes Arrhythmia Synophrys Dystrophic fingernails Aortic root aneurysm Generalized hirsutism Hemivertebrae Intellectual disability, progressive Broad ribs Accelerated skeletal maturation Pericardial effusion Anonychia Spina bifida occulta Large for gestational age Hemangioma Metaphyseal widening Muscle weakness Intellectual disability, severe Gingival overgrowth Spondyloepiphyseal dysplasia Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Pleural effusion Noncompaction cardiomyopathy Eosinophilia Tachypnea Recurrent pneumonia Meningitis Short toe Sinusitis Recurrent otitis media Humoral immunodeficiency Irregular femoral epiphysis Thickened skin Short distal phalanx of finger Nephrolithiasis Hypertrichosis Intellectual disability, profound Bilateral sensorineural hearing impairment Overgrowth Delayed eruption of teeth Thick vermilion border Congenital cataract Biconvex vertebral bodies Protruding ear Dyspnea Mandibular prognathia Polydactyly Abnormality of the skeletal system Myopia Cataract Thin bony cortex Low posterior hairline Colpocephaly Natal tooth Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Freckling Abnormality of the testis Neurodevelopmental delay Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Overfolded helix Patent foramen ovale Nasal speech Abnormally large globe Abnormality of refraction Relative macrocephaly Abnormality of the nasal bridge Left ventricular noncompaction Sinus bradycardia Ventricular fibrillation Atrioventricular block Bradycardia Atrial fibrillation Vertigo Broad fingertip Slow-growing hair Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Deep philtrum Coarse hair Long penis Epicanthus Hypoglycemia High forehead Hypothyroidism Hyperactivity Prominent forehead Delayed skeletal maturation Pectus excavatum Mesiodens Craniosynostosis Short distal phalanx of toe Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Optic nerve hypoplasia Cafe-au-lait spot Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Hoarse voice Hyperpigmentation of the skin Thin skin Pectus carinatum Sparse scalp hair Coarctation of aorta Cyanosis Growth hormone deficiency Webbed neck Ichthyosis Carious teeth Hypotrichosis Cardiomegaly Cerebellar hypoplasia Underdeveloped nasal alae Scapular winging Myotonia Short metatarsal Ventricular arrhythmia Oligodontia Reduced tendon reflexes Ventricular tachycardia Bilateral single transverse palmar creases Prolonged QT interval Short phalanx of finger Hypoplasia of dental enamel Broad nasal tip Triangular face Hypoplasia of the maxilla Wide nose 2-3 toe syndactyly Short finger Joint laxity Short mandibular rami Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Clinodactyly of the 5th toe Left bundle branch block First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Torsade de pointes T-wave inversion Toe syndactyly Elevated serum creatine phosphokinase Spasticity Pain Increased susceptibility to fractures Bicuspid aortic valve Cutaneous syndactyly Recurrent fractures Abdominal pain Renal insufficiency Abnormal electrophysiology of sinoatrial node origin Perimembranous ventricular septal defect Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Upper limb muscle weakness Abnormality of the foot Myopathy Cutaneous finger syndactyly Gastritis Depressivity Bifid uvula Malar flattening Periorbital fullness Severe failure to thrive Lissencephaly Short chin Delayed myelination Severe global developmental delay Arterial stenosis Obesity Hypertonia Carotid artery stenosis Renovascular hypertension Renal artery stenosis Coronary artery stenosis Intellectual disability, borderline Aplasia/Hypoplasia of the maxilla Recurrent respiratory infections Premature birth Neonatal respiratory distress Pierre-Robin sequence Double outlet right ventricle Tracheomalacia Anteriorly placed anus Hypoplastic left heart Bilateral cryptorchidism Abnormality of the genitourinary system Cleft soft palate Microretrognathia Sparse eyelashes Wide anterior fontanel Large fontanelles Pachygyria Abnormality of the genital system Tracheal stenosis Abnormality of the larynx Cerebellar vermis hypoplasia Immunodeficiency Single transverse palmar crease Retinal dystrophy Tachycardia Lymphadenopathy Hypogonadism Pneumonia Intellectual disability, mild Entropion Edema Laryngeal hypoplasia Bronchomalacia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Short palpebral fissure Oligohydramnios Brachycephaly Highly arched eyebrow Holoprosencephaly Low anterior hairline Long eyelashes Narrow forehead Esotropia Short foot Smooth philtrum Prominent metopic ridge Poor speech Prominent nasal bridge Coloboma Respiratory tract infection Deeply set eye EEG abnormality Widely spaced teeth Hemihypertrophy Intestinal malrotation Telecanthus Abdominal distention Postural instability Narrow chest Abnormal cardiac septum morphology Blepharophimosis Abnormality of the pinna Respiratory failure Limited elbow movement Flexion contracture Hypospadias Respiratory distress Dysphagia Depressed nasal bridge Curly eyelashes Semilobar holoprosencephaly Sick sinus syndrome



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