Ventricular septal defect, and Thin skin

Diseases related with Ventricular septal defect and Thin skin

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Thin skin that can help you solving undiagnosed cases.

Top matches:

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Other less relevant matches:

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

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE Is also known as eds, cardiac valvular type

Related symptoms:

  • Fatigue
  • Atrial septal defect
  • Dilatation
  • Hernia
  • Pectus excavatum


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Thin skin

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Ventricular septal defect and Thin skin. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Sparse hair

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Pectus excavatum Abnormal facial shape Abnormality of the skeletal system Hernia Umbilical hernia Failure to thrive Low-set ears Strabismus Joint laxity Prominent forehead Short nose Hypertelorism High palate Growth delay Microcephaly Muscular hypotonia Ptosis Narrow mouth Joint hypermobility Anteverted nares Ventriculomegaly Feeding difficulties Cryptorchidism Motor delay High forehead Coarctation of aorta Abnormal cardiac septum morphology Intestinal malrotation Inguinal hernia Patent ductus arteriosus Posteriorly rotated ears Intrauterine growth retardation Gastroesophageal reflux Coarse hair Flexion contracture Macrotia Brachydactyly Nystagmus Brachycephaly Hiatus hernia Agenesis of corpus callosum Retrognathia Carious teeth Abnormality of cardiovascular system morphology Pes planus Constipation Seizures Abnormal heart morphology Hyperextensible skin Cleft palate Dermal translucency Fine hair Postnatal growth retardation Hypoplasia of the corpus callosum Syndactyly Blepharophimosis Scarring Conductive hearing impairment Protruding ear Blue sclerae Hypotrichosis Bruising susceptibility Ectodermal dysplasia Delayed speech and language development Myopia

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Congenital hip dislocation Progeroid facial appearance Wide anterior fontanel Mandibular prognathia Corneal opacity Poor suck Mild short stature Thin vermilion border Neurodevelopmental delay Large fontanelles Prematurely aged appearance Cutis laxa Adducted thumb Fragile nails Calcaneovalgus deformity Recurrent skin infections Narrow palate Optic atrophy Hydronephrosis Facial asymmetry Overgrowth Omphalocele Increased body weight Horseshoe kidney Diastasis recti Microcornea Abnormality of the larynx Fatigue Mitral valve prolapse Atrophic scars Muscle weakness Kyphoscoliosis Osteopenia Short philtrum Thick eyebrow Generalized hirsutism Iris coloboma Epicanthus Mitral regurgitation Downslanted palpebral fissures Short neck Hydrocephalus Hypoglycemia Craniosynostosis High, narrow palate Growth hormone deficiency Sparse scalp hair Hoarse voice Hirsutism Arnold-Chiari malformation Overfolded helix Respiratory distress Polydactyly Thin upper lip vermilion Telecanthus Abnormality of the pinna Coloboma Astigmatism Respiratory failure Dry skin Dental crowding Frontal bossing Supernumerary nipple Underdeveloped nasal alae Delayed eruption of teeth Camptodactyly Alopecia Broad forehead Ectrodactyly Arachnodactyly Cleft upper lip Clinodactyly of the 5th finger Hypodontia Soft skin Widely spaced teeth Thick nail Narrow nose Kyphosis Delayed skeletal maturation Pointed chin Sparse and thin eyebrow Talipes equinovarus Abnormality of dental enamel Cleft lip Vomiting Finger syndactyly Absent speech Midface retrusion Malar flattening Short chin Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Ulcerative colitis Abnormal cornea morphology Hand oligodactyly Verrucae Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Inspiratory stridor Absent fingernail Clitoral hypoplasia Abnormal palmar dermatoglyphics Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Caudal appendage Absent toenail Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Hypoplastic pelvis Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Lower limb asymmetry Aplasia/Hypoplasia of the lungs Duodenal atresia Spina bifida occulta Chorioretinal coloboma Ectropion Ectopia lentis Hand polydactyly Brittle hair Short metatarsal Dermal atrophy Reduced number of teeth Long nose Oligodontia Renal hypoplasia/aplasia Multicystic kidney dysplasia Abnormality of dental morphology Abnormality of the nail Short ribs Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Narrow maxilla Split hand Renal hypoplasia Stridor Anophthalmia Acute hepatic failure Facial cleft Cutis marmorata Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Apocrine hidrocystoma Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Aplasia cutis congenita Open bite Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Vertebral fusion Colitis Macule Mixed hearing impairment Short finger Hypermelanotic macule Cholesteatoma Osteoporosis Giant cell tumor of bone Pulmonary arterial hypertension Reduced bone mineral density Sleep apnea Accelerated skeletal maturation Gingival overgrowth Tall stature Decreased body weight Pachygyria Bowing of the long bones Open mouth Choanal atresia Aciduria Incoordination Recurrent fractures Short distal phalanx of finger Polymicrogyria Joint hyperflexibility Synophrys Apnea Proptosis Cerebellar hypoplasia Pneumonia Cerebral atrophy Hypertension Laryngomalacia Increased susceptibility to fractures Hyperalgesia Eclabion Large sternal ossification centers Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Atlantoaxial dislocation Recurrent aspiration pneumonia Dicarboxylic aciduria Short sternum Slender long bone Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Glossoptosis Megalocornea Poor appetite Hypoplasia of the odontoid process Spinal canal stenosis Protruding tongue Abnormality of the duodenum Decreased palmar creases Midclavicular hypoplasia Prominent nasal bridge Tapered finger Retinal detachment Deeply set eye Talipes Arthrogryposis multiplex congenita Anal atresia Glaucoma Long philtrum Premature loss of primary teeth Broad thumb Microdontia Genu recurvatum High myopia Striae distensae Abnormality of the genital system Aortic regurgitation Palpitations Atrial fibrillation Congenital diaphragmatic hernia Dyspnea Arrhythmia Dilatation Finger clinodactyly Midclavicular aplasia Nephrotic syndrome Recurrent urinary tract infections Talipes valgus Abnormality of the sternum Flat forehead Endocarditis Abnormal anterior chamber morphology Pneumothorax Ecchymosis Generalized joint laxity Low hanging columella Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Prolonged bleeding time Nephrolithiasis Delayed cranial suture closure Bilateral talipes equinovarus Abnormality of the coagulation cascade Cerebral hemorrhage Bilateral cryptorchidism Congenital contracture Pterygium Microretrognathia Joint dislocation Low anterior hairline Exotropia Interphalangeal joint contracture of finger Nail dystrophy Postaxial hand polydactyly Webbed neck Cafe-au-lait spot Submucous cleft hard palate Thick lower lip vermilion Low posterior hairline Ventricular hypertrophy Eczema Cyanosis Dandy-Walker malformation Wide intermamillary distance Generalized hyperpigmentation Hypoplastic labia majora Non-midline cleft lip Ichthyosis Pulmonic stenosis Dolichocephaly Pectus carinatum Attention deficit hyperactivity disorder Dystrophic toenail Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Pili torti Dystrophic fingernails Conical tooth Hyperpigmentation of the skin Hypocalcemia Hyperactivity Aplasia/Hypoplasia of the eyebrow Abnormally large globe Hypomagnesemia Sparse eyelashes Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Freckling Abnormality of coagulation Right bundle branch block Abnormality of the fingernails Hypoplastic toenails Abnormality of the voice Failure to thrive in infancy Patent foramen ovale Nasal speech Deep philtrum Relative macrocephaly Optic nerve hypoplasia Increased intracranial pressure Infantile muscular hypotonia Abnormal palate morphology Hypothyroidism Cardiomyopathy Abnormality of the testis Wormian bones Multiple joint contractures Small, conical teeth Athetosis Redundant skin Progressive alopecia Decreased number of sweat glands Cataract Hyperammonemia Spasticity Opacification of the corneal stroma Hyperreflexia Congenital glaucoma Elbow flexion contracture Skeletal muscle atrophy Tremor Decreased fetal movement Hypotelorism Triangular face Distal amyotrophy Respiratory insufficiency Hip dislocation Difficulty walking Visual loss Submucous cleft soft palate Reduced subcutaneous adipose tissue Dry hair Corneal arcus Cystic renal dysplasia Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Macrocephaly Ankyloblepharon Hyperconvex nail Velopharyngeal insufficiency Prominent superficial blood vessels Hypoargininemia Polar cataract Wide cranial sutures Thin ribs Trichodysplasia Hyperconvex fingernails Narrow nasal ridge Excessive wrinkled skin Overlapping fingers Premature skin wrinkling Absent lacrimal punctum Severe failure to thrive Severe intrauterine growth retardation Subcapsular cataract Pili canaliculi Enlarged cisterna magna Redundant neck skin Wide nasal bridge Diastema Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Advanced eruption of teeth Cognitive impairment Hypocholesterolemia Long penis Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Ketoacidosis Bell-shaped thorax Growth hormone excess Abnormality of the thyroid gland Metatarsus adductus Neoplasm Dysphagia Neonatal respiratory distress Papule Abnormality of the skin Nail dysplasia Dental malocclusion Short metacarpal Broad nasal tip Hypospadias Abnormality of the foot Toe syndactyly Pruritus Severe short stature Microtia Blindness Cough Camptodactyly of finger Erythema Reduced visual acuity Weight loss Abdominal pain Hyperhidrosis Clinodactyly Obesity Microphthalmia Abnormality of the dentition Hyperglycemia Clitoral hypertrophy Abnormality of refraction Intellectual disability, severe Abnormality of the nervous system Neonatal hypotonia Small nail Recurrent otitis media Coarse facial features Hyperkeratosis Renal dysplasia Diabetes mellitus Upslanted palpebral fissure Recurrent infections Hypohidrosis Muscular hypotonia of the trunk Peripheral neuropathy Abnormality of the nasal bridge Broad fingertip Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Proteinuria Abnormality of the kidney Sparse eyebrow Optic disc pallor Precocious puberty Polycystic ovaries Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Narrow face Preauricular skin tag Insulin resistance Hypertrichosis Epidermal acanthosis Dehydration Feeding difficulties in infancy Abdominal distention Single transverse palmar crease Thick vermilion border Postaxial polydactyly Pulmonary hypoplasia Long face Palmoplantar keratoderma Hypoplasia of the maxilla Smooth philtrum Bifid uvula Hyperlordosis Distal widening of metacarpals


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thin upper lip vermilion, related diseases and genetic alterations