Cardiomyopathy, and Short palpebral fissure

Diseases related with Cardiomyopathy and Short palpebral fissure

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


Top matches:

Medium match ARTERIAL TORTUOSITY 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

Medium 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

Medium match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

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Other less relevant matches:

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

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 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Short palpebral fissure

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Blepharophimosis

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Cryptorchidism Postnatal growth retardation Hearing impairment Abnormal heart morphology Respiratory distress Ptosis Intrauterine growth retardation Downslanted palpebral fissures Ventricular septal defect Hypogonadism Cleft palate Narrow palpebral fissure Micrognathia Abnormality of cardiovascular system morphology Hypospadias Short neck Generalized hypotonia Cataract Epicanthus Microphthalmia Abnormal cardiac septum morphology Respiratory failure Strabismus Thin upper lip vermilion Fatigue Clinodactyly of the 5th finger Delayed speech and language development Depressed nasal bridge Brachydactyly Inguinal hernia Congestive heart failure Macrocephaly Hydrocephalus Dilated cardiomyopathy Syndactyly Hernia Muscular hypotonia Clinodactyly Patent ductus arteriosus Agenesis of corpus callosum Retrognathia Mandibular prognathia Seizures Cafe-au-lait spot Specific learning disability Motor delay Severe short stature Failure to thrive

Rare Symptoms - Less than 30% cases


Flexion contracture Short toe Abnormality of the genital system Abnormality of the skeletal system Retinal dystrophy Hepatomegaly Entropion Midface retrusion Camptodactyly Oligohydramnios Arrhythmia Anal atresia Narrow mouth Abnormality of skin pigmentation Downturned corners of mouth Tachycardia Dolichocephaly Irregular vertebral endplates Sensorineural hearing impairment Intellectual disability, mild Wide nasal bridge Tracheal stenosis Hypothyroidism Small for gestational age Feeding difficulties Pneumonia Abnormality of the penis Astigmatism Recurrent otitis media Talipes equinovarus Micropenis Ventriculomegaly Anteriorly placed anus Bulbous nose Thin vermilion border Microtia Ataxia Choanal atresia Amblyopia Epispadias Short palm Pulmonic stenosis Short nose Hypopigmented skin patches Abnormality of the testis Keratoconus Webbed neck Abnormality of the sternum Hip dislocation Femoral hernia Macrotia Abnormal carotid artery morphology High palate Dyspnea Sloping forehead Dilatation Malar flattening Abnormal eyelid morphology Hypertension Anteverted nares Hypoplasia of the corpus callosum Vomiting Hypopigmentation of the skin Scoliosis Patellar hypoplasia Cavum septum pellucidum Congenital hypothyroidism Disproportionate tall stature Bundle branch block Hypoplasia of teeth Torticollis Right bundle branch block Narrow naris Mask-like facies Focal impaired awareness seizure Hearing abnormality Cutis laxa Chromosome breakage Pointed chin Wide nasal base Irregular hyperpigmentation Prominent occiput Abnormality of the ulna Absent radius Widely spaced teeth Abnormality of the outer ear Microdontia Delayed myelination Talipes Proteinuria External ear malformation Posteriorly rotated ears Scrotal hypoplasia Aplasia/Hypoplasia of the radius Abnormality of the dentition Intellectual disability, severe Macular degeneration Heart murmur Joint laxity Aplastic anemia Convex nasal ridge Compensated hypothyroidism Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Duplicated collecting system Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Almond-shaped palpebral fissure Absent testis Duodenal stenosis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Meckel diverticulum Decreased fertility in males Low-grade fever Clubbing of toes Aplasia/Hypoplasia of the iris Partial duplication of thumb phalanx Abnormal palmar dermatoglyphics Abnormality of the preputium Primary hypothyroidism Arteriovenous malformation Polymicrogyria Focal-onset seizure B-cell lymphoma Abnormality of the upper limb Gliosis Complete duplication of thumb phalanx Sepsis Abnormality of the uterus Triangular face Abnormality of the thumb Bicornuate uterus Abnormality of nervous system morphology Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Abnormality of chromosome stability Protruding ear Reticulocytopenia Abnormal aortic morphology Epicanthus inversus Erythema Neonatal asphyxia Absent septum pellucidum Colpocephaly Supraventricular tachycardia Echolalia Retinal dysplasia Ocular albinism Sclerocornea Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Aplasia/Hypoplasia of the skin Chordee Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Tricuspid regurgitation Ventricular fibrillation Anophthalmia Clitoral hypertrophy Periventricular leukomalacia Abnormality of earlobe Dermal atrophy Vitritis Curly hair Cubitus valgus Thick lower lip vermilion Dry skin Thick vermilion border Wide mouth Prominent forehead Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Histiocytoid cardiomyopathy Abnormal nasolacrimal system morphology Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Patent foramen ovale Mutism Multiple bladder diverticula Sinusitis Narrow nose Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Eosinophilia Tachypnea Finger clinodactyly Recurrent pneumonia Meningitis Cardiomegaly Short digit Eczema Underdeveloped nasal alae Short metacarpal Premature birth Single transverse palmar crease Lymphadenopathy Hepatosplenomegaly Immunodeficiency Long philtrum Splenomegaly Edema Pulmonary edema Humoral immunodeficiency Sacral dimple Iris coloboma Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Abnormality of retinal pigmentation Mitral regurgitation Status epilepticus Congenital diaphragmatic hernia Ambiguous genitalia Mitral valve prolapse Pigmentary retinopathy Wide nose Prominent eyelashes Nail dystrophy Corneal opacity Skin rash Coloboma Acute myeloid leukemia Glaucoma Visual loss Abnormality of metabolism/homeostasis Blindness Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Abnormality of blood and blood-forming tissues Pes planus Multiple cafe-au-lait spots Bronchomalacia Autism Hyperactivity Recurrent respiratory infections Constipation Obesity Recurrent infections Behavioral abnormality Cerebellar atrophy Respiratory insufficiency Laryngeal hypoplasia Anotia Conductive hearing impairment Extramedullary hematopoiesis Endocardial fibroelastosis Redundant neck skin Abnormality of the larynx Cleft soft palate Pierre-Robin sequence Double outlet right ventricle Tracheomalacia Hypoplastic left heart Bilateral cryptorchidism Deeply set eye Cleft lip Proximal placement of thumb Progressive cerebellar ataxia Thickened skin Abnormality of the metaphysis Abnormal lung morphology Fine hair Abnormality of the ribs Coarctation of aorta Abnormality of the cardiovascular system Amenorrhea Limitation of joint mobility Bifid uvula Hypoplasia of the maxilla Respiratory tract infection Thick eyebrow Oral cleft Hypermetropia Platyspondyly Prominent nasal bridge Short philtrum Cough Scarring Sparse hair Joint stiffness Autistic behavior Neonatal respiratory distress Abnormality of the genitourinary system Aortic valve stenosis Hyperextensible skin Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Telangiectasia of the skin Rocker bottom foot Aortic aneurysm Pyloric stenosis Redundant skin Coxa vara Esophagitis Coxa valga Cardiac arrest Thin skin Myocardial infarction Hip dysplasia Long face Arachnodactyly Joint hyperflexibility Craniosynostosis Gastroesophageal reflux Myopia Aortic dissection Myocarditis Microretrognathia Hirsutism Sparse eyelashes Wide anterior fontanel Large fontanelles Pachygyria Cerebellar vermis hypoplasia Small nail Intestinal malrotation Full cheeks Abdominal distention Postural instability Narrow chest Abnormal myocardium morphology Abnormality of the pinna Telecanthus Polyhydramnios Cerebellar hypoplasia Dysphagia Abnormality of the zygomatic bone Keratoglobus Long palm Median cleft lip and palate Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormality of epiphysis morphology EMG abnormality Myeloid leukemia Toe syndactyly Aganglionic megacolon Pancytopenia Tetralogy of Fallot Renal agenesis Lymphoma Neutropenia Bruising susceptibility Vertigo Facial asymmetry Abnormality of the foot Finger syndactyly Telangiectasia Leukemia Abnormality of the liver Irritability Abnormality of the kidney Abnormality of the eye Carcinoma Umbilical hernia Proptosis Weight loss Diabetes mellitus Upslanted palpebral fissure Recurrent urinary tract infections Short thumb Headache Abnormality of the urinary system Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of vision Insulin resistance Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Thrombocytopenia Renal insufficiency Short long bone Short finger Chronic constipation Oligomenorrhea Submucous cleft hard palate Wheezing Pericarditis Arthropathy Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Pericardial effusion Broad ribs External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Precocious puberty Hypoplastic iliac wing Restrictive cardiomyopathy Frontal bossing Generalized muscle hypertrophy Fever Hyperreflexia Visual impairment Anemia Neoplasm Nystagmus Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Abnormality of the pubic bone Craniofacial hyperostosis Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Peptic ulcer Constrictive median neuropathy Multiple lentigines



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