Cardiomyopathy, and Small nail

Diseases related with Cardiomyopathy and Small nail

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


Top matches:

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

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

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Other less relevant matches:

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 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 COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

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 SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Small nail

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Thin vermilion border Cataract Patent ductus arteriosus Seizures Hypertelorism Downslanted palpebral fissures Microcephaly Brachydactyly Cryptorchidism Ventricular septal defect Agenesis of corpus callosum Ventriculomegaly Cerebellar vermis hypoplasia Hepatomegaly Depressed nasal bridge Micrognathia Atrial septal defect Syndactyly Scoliosis Polyhydramnios Abnormality of the skeletal system Macrotia Hypotrichosis Short stature Low-set ears Short neck Coarse facial features Hypoplasia of the corpus callosum Dandy-Walker malformation Ventricular hypertrophy Hernia Wide mouth Umbilical hernia Joint hypermobility Protruding ear Intellectual disability, severe Macroglossia Hypertension Strabismus Severe global developmental delay Hypertrophic cardiomyopathy Tapered finger Short distal phalanx of finger Retrognathia Respiratory distress Congestive heart failure Posteriorly rotated ears Respiratory failure Pectus excavatum High forehead Hypoglycemia Redundant neck skin Epicanthus Cardiomegaly Feeding difficulties Mandibular prognathia Hypospadias Anonychia Failure to thrive Thick lower lip vermilion Thick vermilion border Abnormality of cardiovascular system morphology Abnormality of digit Sensorineural hearing impairment Dilated cardiomyopathy Ptosis Short nose Postnatal growth retardation Abnormal heart morphology Cleft palate Intrauterine growth retardation Wide nasal bridge High, narrow palate Pulmonic stenosis

Rare Symptoms - Less than 30% cases


Relative macrocephaly Oligohydramnios Enlarged kidney Aplasia/Hypoplasia of the eyebrow Dolichocephaly Anteriorly placed anus Wide intermamillary distance Delayed skeletal maturation Short palm Abnormality of the pinna Renal dysplasia Hypoplastic toenails Narrow palate Abnormal cardiac septum morphology Telecanthus Overfolded helix Multicystic kidney dysplasia Toe syndactyly Delayed speech and language development Coarse hair Natal tooth Hypertonia Webbed neck Sparse hair Intestinal malrotation Tapered toe Abnormality of dental morphology Sparse scalp hair Mitral regurgitation Low-set, posteriorly rotated ears Abnormality of the genital system Pachygyria Cerebellar hypoplasia Hoarse voice Large fontanelles Short toe Vomiting Wide anterior fontanel Narrow palpebral fissure Sparse eyelashes Dilatation Ureteral duplication Hypothyroidism Clinodactyly Left ventricular hypertrophy Hirsutism Accelerated skeletal maturation Hypodontia Irritability Inguinal hernia Neonatal respiratory distress Congenital cataract Thick eyebrow Neurological speech impairment Wide nose Delayed eruption of teeth Nail dysplasia Single transverse palmar crease Carious teeth Overgrowth Premature loss of primary teeth Broad palm Scarring Dental malocclusion Alopecia Elevated serum creatine phosphokinase Fatigue Muscle weakness Large for gestational age Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Skin vesicle Milia Polydactyly Hyperextensibility of the finger joints Bulbous nose Proptosis Upslanted palpebral fissure Feeding difficulties in infancy Hydronephrosis Short chin Prominent forehead Arrhythmia Splenomegaly Obesity Broad secondary alveolar ridge Bifid uvula Pectus carinatum Hyperconvex fingernails Hypoplastic fingernail Abnormality of the neck Bilateral microphthalmos Severe hearing impairment Absent thumb Hypoplastic labia majora Short middle phalanx of finger Small earlobe Thin ribs Abnormality of blood and blood-forming tissues Absent nipple Aplasia/Hypoplasia of the nipples Aplasia/Hypoplasia of the thumb Flared metaphysis Hypoplastic scapulae Inverted nipples Aplastic clavicle Abnormality of finger Metatarsus adductus Short finger Glossoptosis Decreased skull ossification Sclerocornea Short clavicles Short philtrum Rocker bottom foot Restrictive cardiomyopathy Cataplexy Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Acrocyanosis Pseudoepiphyses of the metacarpals Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Atonic seizures Thickened calvaria Progressive spasticity Broad hallux Loss of consciousness Emphysema Abnormality of neuronal migration Large hands Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Stooped posture Retinoschisis Absent eyebrow Neuronal loss in central nervous system Clitoral hypertrophy Sparse eyebrow Pyloric stenosis Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short ribs Sparse and thin eyebrow Short thumb Hydrops fetalis Short phalanx of finger Pulmonary arterial hypertension Tetralogy of Fallot Premature birth Lumbar kyphosis Hypopigmentation of the skin Hip dislocation Microtia Thin upper lip vermilion Narrow mouth Micropenis Microphthalmia Edema Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Congenital microcephaly Sandal gap Arrhinencephaly Cupped ear Broad foot Abnormal lung lobation Neuroblastoma Transposition of the great arteries Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Bundle branch block Hydroureter Bilateral talipes equinovarus Preauricular pit Nephroblastoma Polysplenia Abnormality of the voice Abnormality of the hand Congenital hip dislocation Cardiac arrest Preauricular skin tag Cerebral visual impairment Tall stature Broad thumb Clumsiness Omphalocele Abnormality of the ribs Congenital diaphragmatic hernia Hypoplasia of penis Low hanging columella Diastasis recti Broad nasal tip Penoscrotal hypospadias Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Short 2nd finger Broad toe Duodenal atresia Embryonal neoplasm Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Postaxial hand polydactyly Renal cyst Wide cranial sutures Generalized hypotrichosis Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Abnormality of the scapula Aplasia/Hypoplasia of the proximal phalanx of the hallux Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Narrow nasal base Aplasia of the distal phalanges of the hand Short foot Tapered distal phalanges of finger Retinal detachment Postaxial polydactyly Cleft upper lip Facial asymmetry Finger syndactyly Camptodactyly of finger Cleft lip Clinodactyly of the 5th finger Abnormality of the dentition Blindness Talipes equinovarus Neoplasm Widely spaced toes Mitten deformity Aplasia/hypoplasia of the 1st metatarsal Esophageal ulceration Phimosis Oral mucosal blisters Acantholysis Skin erosion Alopecia universalis Alopecia totalis Aplasia cutis congenita Fragile skin Redundant skin Finger clinodactyly Abnormality of the nail Aplasia of the distal phalanx of the hallux Prominent supraorbital ridges Coarctation of aorta Schizophrenia Long toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Cystic renal dysplasia Antenatal intracerebral hemorrhage Hypoketotic hypoglycemia Hypothermia Heart block Hyperkalemia Cerebral hemorrhage Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Knee flexion contracture Elbow flexion contracture Sloping forehead Intracerebral periventricular calcifications Decreased plasma total carnitine Coma Bilateral cryptorchidism Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Abnormality of the larynx Cleft soft palate Tracheal stenosis Pierre-Robin sequence Double outlet right ventricle Tracheomalacia Hypoplastic left heart Proximal placement of thumb Elevated serum long-chain fatty acids Abnormality of the genitourinary system Microretrognathia Short palpebral fissure Full cheeks Abdominal distention Postural instability Downturned corners of mouth Narrow chest Blepharophimosis Dysphagia Long-chain dicarboxylic aciduria Aciduria Metabolic acidosis Laryngeal hypoplasia Nail dystrophy Abnormality of mitochondrial metabolism Dermal atrophy Palmoplantar hyperkeratosis Mutism Ventricular tachycardia Abnormality of dental enamel Progressive muscle weakness Hypoplasia of dental enamel Abnormal blistering of the skin Tachycardia Ophthalmoplegia Papule Keratitis Muscular dystrophy Facial palsy Pneumonia Myopathy Anemia Skull asymmetry Periorbital fullness Lissencephaly Delayed myelination Absent speech Long philtrum Ophthalmoparesis Aphasia Hepatic steatosis Flexion contracture Polymicrogyria Hepatic failure Abnormality of the foot Lethargy Apnea Neonatal hypotonia Elevated hepatic transaminase Acidosis Renal insufficiency Respiratory insufficiency Hyperreflexia Punctate keratitis Dysphasia Decreased miniature endplate potentials Urethral stricture Muscle flaccidity Scarring alopecia of scalp Oculomotor nerve palsy Increased connective tissue Echolalia Nemaline bodies Severe postnatal growth retardation Lipoma Fatigable weakness Aplasia/Hypoplasia of the skin Bronchomalacia Myopia Sleep apnea Slow-growing hair Cognitive impairment Abnormality of the nasal bridge Broad fingertip 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 Abnormality of refraction Skeletal muscle atrophy Abnormality of the testis Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Freckling Peripheral neuropathy Optic atrophy Abnormality of coagulation Tetraplegia Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutis laxa Coxa valga Abnormality of the hair Abnormality of retinal pigmentation Decreased body weight Abnormal form of the vertebral bodies Open mouth Psychosis Short metacarpal Hypoplasia of the maxilla Gait disturbance Highly arched eyebrow Everted lower lip vermilion Joint hyperflexibility Hyperlordosis Mental deterioration Pes planus Kyphoscoliosis Cerebral cortical atrophy Kyphosis Intellectual disability, mild Frontal bossing Neurodevelopmental delay Right bundle branch block Dyspnea Spina bifida occulta Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Aortic root aneurysm Pericardial effusion Metaphyseal widening Growth abnormality Hemangioma Intellectual disability, progressive Biliary atresia Hemivertebrae Generalized hirsutism Gingival overgrowth Thickened skin Nephrolithiasis Hypertrichosis Intellectual disability, profound Bilateral sensorineural hearing impairment Synophrys Broad forehead Hepatosplenomegaly Cavernous hemangioma Generalized hypertrichosis Patent foramen ovale Thin skin Nasal speech Deep philtrum Optic nerve hypoplasia Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Cafe-au-lait spot Low posterior hairline Everted upper lip vermilion Eczema Cyanosis Growth hormone deficiency Ichthyosis Attention deficit hyperactivity disorder Craniosynostosis Gastroesophageal reflux Hyperactivity Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Two carpal ossification centers present at birth



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