Cardiomyopathy, and Smooth philtrum

Diseases related with Cardiomyopathy and Smooth philtrum

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


Top matches:

Medium match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Medium 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

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match INTERMEDIATE NEMALINE MYOPATHY


Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Low match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low 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

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Smooth philtrum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Pectus excavatum Ventricular septal defect Mitral valve prolapse Growth delay Scoliosis Microcephaly Thin upper lip vermilion Mitral regurgitation Small hand Wide mouth Low-set ears Intrauterine growth retardation Intellectual disability, moderate Intellectual disability Hearing impairment Strabismus Cryptorchidism Anteverted nares Feeding difficulties Hypertelorism Short neck Motor delay Cleft palate Cataract Hernia Downslanted palpebral fissures Ventricular hypertrophy Absent speech Stroke Failure to thrive in infancy Gastroesophageal reflux Failure to thrive High, narrow palate Generalized hypotonia Narrow forehead Obesity Retrognathia Joint laxity Sensorineural hearing impairment Cognitive impairment Macrocephaly Atrial septal defect Patent ductus arteriosus Pulmonic stenosis Thick vermilion border Kyphosis Congestive heart failure Myopia Highly arched eyebrow Visual impairment Hypertension Flexion contracture Protruding ear

Rare Symptoms - Less than 30% cases


Macroglossia Kyphoscoliosis Periorbital fullness Craniosynostosis Paralysis Feeding difficulties in infancy Behavioral abnormality Broad forehead Pes planus Abnormality of the cardiovascular system Macrotia Premature graying of hair Hypothyroidism Small nail Malar flattening Cerebellar hypoplasia Clinodactyly of the 5th finger Umbilical hernia Chest pain Everted lower lip vermilion Diabetes mellitus Celiac disease Short philtrum Precocious puberty Pain Polyhydramnios Epicanthus Disproportionate tall stature Wide nasal bridge Myopathy Cerebral hemorrhage Hypertonia Abnormality of dental morphology Radioulnar synostosis Short nose Nemaline bodies Small for gestational age Gingival overgrowth Posteriorly rotated ears Open mouth Decreased fetal movement Convex nasal ridge Otitis media Growth hormone deficiency Joint hyperflexibility Coarse facial features Vocal cord paralysis Severe global developmental delay Neurological speech impairment Genu valgum Webbed neck Respiratory distress Ventriculomegaly Long face Esotropia Full cheeks Delayed speech and language development Frontal bossing Astigmatism Dilated cardiomyopathy Autistic behavior Dysphagia Spasticity Thick eyebrow Synophrys Long eyelashes Brachydactyly Dilatation Prominent nasal bridge Clinodactyly Hypoplasia of the corpus callosum Recurrent respiratory infections Respiratory tract infection Thrombocytopenia Deeply set eye Upslanted palpebral fissure High forehead Nystagmus Autism Pointed chin Muscular hypotonia Low anterior hairline Chronic otitis media Preauricular skin tag Cutis marmorata Depressed nasal bridge Aortic regurgitation Widely spaced teeth Proximal placement of thumb Skull asymmetry Bladder diverticulum Tubulointerstitial abnormality Overriding aorta Aplasia/Hypoplasia of the iris Lacrimation abnormality Abnormality of the ankles Subvalvular aortic stenosis Left ventricular hypertrophy Dandy-Walker malformation Peripheral pulmonary artery stenosis Delayed myelination Decreased plasma carnitine Aortic arch aneurysm Obsessive-compulsive trait Abnormal renal morphology Cystic renal dysplasia Vascular tortuosity Parathyroid hyperplasia Thyroid hypoplasia Protruding tongue Retinal vascular tortuosity Increased nuchal translucency Renal duplication Lissencephaly Gait imbalance Urethral stenosis Phonophobia Short chin Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Colonic diverticula Abnormal endocardium morphology Abnormal glucose tolerance Large earlobe Abnormality of refraction Obsessive-compulsive behavior High hypermetropia Vertebral segmentation defect Hallux valgus Open bite Loss of consciousness Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Unilateral renal agenesis Nephritis Facial cleft Abnormality of the voice Portal hypertension Hypercalcemia Redundant skin Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Prematurely aged appearance Restlessness Cerebral ischemia Blue irides Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Synostosis of joints Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Down-sloping shoulders Insomnia Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Nocturia Abnormal social behavior Abnormality of the bladder Atrial septal dilatation Thromboembolism Striae distensae Abnormal heart valve morphology Dental crowding Atrial fibrillation Limb undergrowth Centrally nucleated skeletal muscle fibers Tachycardia Dyspnea Dysplastic pulmonary valve Juvenile myelomonocytic leukemia Bilateral ptosis Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Scaphocephaly Thoracolumbar scoliosis Cystic hygroma Pterygium Deep philtrum Arnold-Chiari malformation Fused cervical vertebrae Dolichocephaly Mild short stature Supraventricular tachycardia Acetabular dysplasia Hypogonadism Stroke-like episode Azoospermia Congenital ptosis Hypergonadotropic hypogonadism Short phalanx of finger Broad finger Decreased testicular size Abnormality of the nares Abnormal hand morphology Wide nose Moyamoya phenomenon Muscle weakness Endocarditis Reversed usual vertebral column curves Falls Quadricuspid aortic valve Bacterial endocarditis Bulbous nose Mastoiditis Asthenia Tricuspid valve prolapse Underdeveloped nasal alae Low posterior hairline Frequent falls Leukemia Multiple prenatal fractures Renal artery stenosis Calcification of the aorta Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Impaired visuospatial constructive cognition Dyssynergia Supravalvular aortic stenosis Flat cornea Abnormal left ventricle morphology Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Early onset of sexual maturation Stellate iris Type 1 muscle fiber predominance Arthrogryposis multiplex congenita Facial diplegia Hypokinesia Myopathic facies Abnormality of the thorax EMG: myopathic abnormalities Severe muscular hypotonia Premature birth Cervical C2/C3 vertebral fusion Limitation of neck motion Generalized muscle weakness Ophthalmoplegia Facial palsy Bifid uvula Difficulty walking Respiratory failure Hydrocephalus Hyporeflexia Areflexia Skeletal muscle atrophy Thin vermilion border Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Reduced bone mineral density Anxiety Schizophrenia Tall stature Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Progressive microcephaly Abnormality of retinal pigmentation Exotropia Clumsiness Intracranial hemorrhage Lumbar hyperlordosis High myopia Pigmentary retinopathy Progressive visual loss Aciduria Prominent nose Short metacarpal Hypoplasia of the maxilla Microcornea Neutropenia Short metatarsal Rheumatoid arthritis Tapered finger Facial hypotonia Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Microglossia Cubitus valgus Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Abnormality of the hip bone Truncal obesity Constriction of peripheral visual field Single transverse palmar crease Retinal detachment Macrodontia Sparse hair Prominent metopic ridge Holoprosencephaly Decreased body weight Wide intermamillary distance Febrile seizures Short foot Downturned corners of mouth Hirsutism Poor speech Coloboma EEG abnormality Hemihypertrophy Brachycephaly Periventricular gray matter heterotopia Single median maxillary incisor Colpocephaly Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Optic nerve hypoplasia Hip dysplasia Triangular face Enlarged cisterna magna Limited elbow movement Retinal dystrophy Arthritis Iris coloboma Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Delayed puberty Finger syndactyly Nyctalopia Retinopathy Postnatal growth retardation Neonatal hypotonia Semilobar holoprosencephaly Mandibular prognathia Reduced visual acuity Rod-cone dystrophy Visual loss Recurrent infections Microphthalmia Blindness Edema Abnormality of the skeletal system Optic atrophy Curly eyelashes Iris atrophy Bull's eye maculopathy Infantile muscular hypotonia Renal agenesis Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Hypotelorism Tetralogy of Fallot Dehydration Microdontia Dental malocclusion Thick lower lip vermilion Vesicoureteral reflux Sudden cardiac death Broad nasal tip Hypodontia Postural instability Sleep disturbance Oral cleft Dysmetria Malabsorption Carious teeth Renal hypoplasia Myocardial infarction Corneal opacity Hemivertebrae Ischemic stroke Sacral dimple Bicuspid aortic valve Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hypogonadotrophic hypogonadism Hemiparesis Increased body weight Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Amblyopia Nephrolithiasis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Recurrent otitis media Nausea and vomiting Attention deficit hyperactivity disorder Granulocytopenia Prominent eyelashes Gait disturbance Tremor Dysarthria Hyperreflexia Ataxia Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Thick corpus callosum Intellectual disability, mild High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Abnormality of the dentition Renal insufficiency Abnormal cardiac septum morphology Arthralgia Scarring Blepharophimosis Joint stiffness Irritability Hyperlordosis Developmental regression Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Proteinuria Osteopenia Midface retrusion Micropenis Cerebral cortical atrophy Glaucoma Abdominal pain Osteoporosis Constipation Elevated serum creatine phosphokinase Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Depressivity Severe failure to thrive



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