Cardiomyopathy, and Short neck

Diseases related with Cardiomyopathy and Short neck

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


Top matches:

Medium match REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

Medium match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Medium match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

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Other less relevant matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Medium match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Medium match X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium 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

Medium match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Short neck

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hypertelorism Downslanted palpebral fissures Webbed neck Atrial septal defect Curly hair Macrocephaly Epicanthus Pulmonic stenosis Abnormal facial shape Myopathy Arrhythmia Global developmental delay Abnormality of the sternum Rimmed vacuoles Spinal rigidity Ventricular septal defect Elevated serum creatine phosphokinase Ventricular hypertrophy Left ventricular hypertrophy Flexion contracture Muscle weakness Cryptorchidism

Rare Symptoms - Less than 30% cases


Gait disturbance Low-set, posteriorly rotated ears Failure to thrive Patent ductus arteriosus Coarse facial features Ichthyosis Hyperkeratosis Posteriorly rotated ears Anteverted nares Low posterior hairline Microcephaly Bilateral ptosis Long philtrum Hypertension Pectus excavatum Polyhydramnios Limb-girdle muscle weakness Back pain Scapular winging Muscular dystrophy Sparse eyebrow High palate Obesity Cubitus valgus Kyphosis Falls Mandibular prognathia Respiratory failure Proximal muscle weakness Respiratory insufficiency due to muscle weakness Wide mouth Rigidity Frequent falls Depressed nasal bridge Respiratory insufficiency Dilated cardiomyopathy Thick lower lip vermilion Hyperlordosis Acetabular dysplasia Nemaline bodies Thoracolumbar scoliosis Fused cervical vertebrae Limitation of neck motion Cervical C2/C3 vertebral fusion Cognitive impairment Delayed speech and language development Edema Abnormal heart morphology Centrally nucleated skeletal muscle fibers Everted lower lip vermilion Mild short stature Restricted neck movement due to contractures Ventricular escape rhythm Peroneal muscle weakness Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Pelvic girdle muscle atrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Weakness of facial musculature Generalized hypotonia Areflexia Micrognathia Feeding difficulties Motor delay Hyporeflexia Clinodactyly Thin upper lip vermilion Bulbous nose Leukemia Underdeveloped nasal alae Abnormal cardiac septum morphology Relative macrocephaly Abnormality of the cardiovascular system Dandy-Walker malformation Retrognathia Umbilical hernia Severe global developmental delay Thin vermilion border Macroglossia Bifid uvula Delayed myelination Small nail Absent speech Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Protruding tongue Severe failure to thrive Periorbital fullness Hernia Hypertonia Hyperpigmentation of the skin Palmoplantar cutis laxa Proximal lower limb amyotrophy Hyperextensible skin Systemic lupus erythematosus Pleural effusion Acute lymphoblastic leukemia Graves disease Chylothorax Seizures Hydrocephalus Hearing impairment Growth delay Sensorineural hearing impairment Cleft palate Brachydactyly Wide nasal bridge Intrauterine growth retardation Hypoplasia of the corpus callosum Proximal muscle weakness in upper limbs Distal lower limb muscle weakness Tip-toe gait Lumbar hyperlordosis Gowers sign Skeletal muscle atrophy Dysphagia Congestive heart failure Dilatation Foot dorsiflexor weakness Progressive muscle weakness Dysphonia Neuropathic arthropathy Skeletal muscle hypertrophy Lower limb muscle weakness Axial muscle weakness Stiff neck Scapuloperoneal weakness Limited neck flexion Hip flexor weakness Pain Arthropathy Dental malocclusion Thick vermilion border Multiple lentigines Peripheral neuropathy Myopia Dry skin Dolichocephaly Proptosis High forehead Sparse hair Absent eyebrow Broad forehead Peripheral axonal neuropathy Mitral valve prolapse Fine hair Hemangioma Prominent forehead Increased variability in muscle fiber diameter Limb muscle weakness Wide intermamillary distance Peroneal muscle atrophy Distal lower limb amyotrophy Myotonia Toe walking Exertional dyspnea Sprengel anomaly Ankle contracture Vocal cord paralysis Proximal amyotrophy Achilles tendon contracture Lipodystrophy Reduced ejection fraction Sinus bradycardia Cafe-au-lait spot Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Supraventricular arrhythmia Increased LDL cholesterol concentration Limb-girdle muscular dystrophy Atrioventricular block Sparse and thin eyebrow Ventriculomegaly Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Blue irides High anterior hairline Pectus excavatum of inferior sternum Muscular hypotonia Joint stiffness EMG: myopathic abnormalities Sudden cardiac death Waddling gait Hypertriglyceridemia Atrial fibrillation Palpitations Bradycardia Elbow flexion contracture Reduced tendon reflexes Skull asymmetry



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