Ventricular septal defect, and Arachnodactyly

Diseases related with Ventricular septal defect and Arachnodactyly

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


Top matches:

High match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


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

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match CONGENITAL CONTRACTURAL ARACHNODACTYLY


Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Medium match BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME


ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

Medium match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Medium match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Arachnodactyly

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Brachycephaly Muscular hypotonia Generalized hypotonia Narrow mouth Joint laxity Abnormal facial shape Atrial septal defect Pectus carinatum Short philtrum Low-set ears High, narrow palate Feeding difficulties Frontal bossing Failure to thrive Kyphosis Prominent forehead Microcephaly Thin upper lip vermilion Long face Camptodactyly of finger Abnormal heart morphology Aortic root aneurysm Camptodactyly Inguinal hernia Abnormal cardiac septum morphology Motor delay Downslanted palpebral fissures Strabismus Talipes equinovarus Kyphoscoliosis Mitral valve prolapse Arthrogryposis multiplex congenita Joint hyperflexibility Pes planus Smooth philtrum Hypoplasia of the maxilla Joint stiffness Sensorineural hearing impairment Microphthalmia Abnormality of cardiovascular system morphology Short neck Joint contracture of the hand Clinodactyly of the 5th finger Aortic aneurysm Hypertelorism Mitral regurgitation Sandal gap Decreased muscle mass Prominent nasal bridge Talipes Attention deficit hyperactivity disorder Epicanthus Deeply set eye Soft skin Hypermetropia Abnormality of the dentition Dilatation Metatarsus adductus Wide nasal bridge Protruding ear

Rare Symptoms - Less than 30% cases


Blue sclerae Exotropia Esotropia Facial asymmetry Hypoplasia of the corpus callosum Respiratory distress Postnatal growth retardation Bifid uvula Ventriculomegaly Nystagmus Depressed nasal bridge Radioulnar synostosis Optic atrophy Joint hypermobility Failure to thrive in infancy Aortic regurgitation Abnormally large globe Patent foramen ovale Cryptorchidism Interphalangeal joint contracture of finger Bowing of the long bones Elbow flexion contracture Abnormality of the pinna Osteopenia Small face Bicuspid aortic valve Congenital contracture Ulnar deviation of finger Ectopia lentis Myopia Distal arthrogryposis Genu valgum Thick eyebrow Iris coloboma Hearing impairment Abnormality of the sternum Abnormality of the ribs Hydrocephalus Anal atresia Dolichocephaly Situs inversus totalis Macrocephaly Nasal speech Malar flattening Narrow face Blepharophimosis Neurological speech impairment Aggressive behavior Autism Hyperactivity Agenesis of corpus callosum Intellectual disability, mild Behavioral abnormality Short nose Disproportionate tall stature Skeletal muscle atrophy Anteverted nares Severe short stature Long nose Hypospadias Short chin Long philtrum Pointed chin Dental crowding Intellectual disability, severe Pyloric stenosis Intestinal malrotation Obsessive-compulsive behavior Open mouth Narrow nasal bridge Slender finger Retrognathia Proptosis Cerebellar hypoplasia Hernia Midface retrusion Ptosis Abnormally folded helix Cat cry Macrodontia Abnormality of the rib cage Renal hypoplasia Muscular dystrophy Upslanted palpebral fissure Abnormal form of the vertebral bodies Delayed speech and language development Renal dysplasia Absent septum pellucidum Hyperreflexia Blindness Cerebral atrophy Alopecia Epispadias Areflexia Pes cavus Diabetes mellitus Cataract Abnormality of the urinary system Dandy-Walker malformation Primitive reflex Mandibular prognathia Abnormality of the upper urinary tract Renal hypoplasia/aplasia Colpocephaly Myopathy Multicystic kidney dysplasia Submucous cleft hard palate Restlessness Spasticity Posteriorly rotated ears Dextrocardia Abnormality of the penis Respiratory tract infection Abnormality of the kidney Limb joint contracture Mask-like facies Wide anterior fontanel Hydronephrosis Pulmonary hypoplasia Congenital ptosis Abnormality of the cerebellar vermis Hypoplasia of the brainstem Polyhydramnios Peripheral demyelination Micropenis Branchial fistula Myotonia Zollinger-Ellison syndrome Hydroureter Inferior vermis hypoplasia Aplasia/Hypoplasia involving the skeletal musculature Specific learning disability Fixed facial expression Abnormal anatomic location of the heart Renal agenesis Short palpebral fissure Abnormality of the face Decreased head circumference Macrotia Rhizomelia Spondyloepiphyseal dysplasia Hyperextensible skin Cutis laxa Accelerated skeletal maturation Microretrognathia Joint dislocation Meningitis Lymphedema Amblyopia Thoracic hypoplasia Left ventricular hypertrophy Abnormal lung morphology Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Microdontia Webbed neck Short metacarpal Bilateral talipes equinovarus Congenital glaucoma Flat face Multiple joint dislocation Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Talipes equinovalgus Restrictive ventilatory defect Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Generalized osteoporosis 11 pairs of ribs Overlapping fingers Upper limb undergrowth Recurrent fractures Abnormality of the foot Anxiety Abnormality of the hair Prominent metopic ridge High hypermetropia Spastic diplegia Mild short stature Cupped ear Chorioretinal coloboma Poor suck Cachexia Tetralogy of Fallot Ankylosis Decreased testicular size Prominent nose Triangular face Bulbous nose Paraplegia Spastic paraplegia Coloboma Sparse hair Abnormality of the nervous system Sprengel anomaly Sparse lateral eyebrow Pulmonic stenosis Fever Narrow chest Hip dislocation Microtia Cerebral cortical atrophy Glaucoma Osteoporosis Delayed skeletal maturation Congestive heart failure Abnormal hair laboratory examination Abnormality of the thumb Absent toenail Narrow foot Round ear Phimosis Moderately short stature Anteverted ears Broad columella Thin eyebrow Heterotaxy Absent fingernail Severe muscular hypotonia Abnormality of earlobe Graves disease Pain Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Cleft soft palate Syndactyly Spondylolisthesis Broad face Aortic dissection Hiatus hernia Long palpebral fissure Celiac disease Reduced subcutaneous adipose tissue Fatigue Clinodactyly Atrioventricular block Abnormality of the musculature Single umbilical artery Patellar dislocation Megalocornea Scaphocephaly Esophageal atresia Hip contracture Keratoconus Tracheoesophageal fistula Patent ductus arteriosus Clubbing Adducted thumb Knee flexion contracture Abnormal vertebral morphology Chest pain Vertigo Arrhythmia Cerebral hemorrhage Tall stature Slender build Cutis marmorata Broad thumb Psychosis High forehead Brachydactyly Cognitive impairment Narrow maxilla Narrow nose Finger clinodactyly Hallucinations Abnormality of the genital system Thin skin Coarctation of aorta Carious teeth Broad forehead Constipation Abnormality of the skeletal system Anorexia Aplasia/Hypoplasia of the corpus callosum Osteoarthritis Low frustration tolerance Overgrowth Syncope Bruising susceptibility Small for gestational age Neonatal hypotonia Hyporeflexia Oppositional defiant disorder Velopharyngeal insufficiency Abnormality of the genitourinary system Ascending tubular aorta aneurysm Impaired social interactions Macroorchidism Emotional lability Abnormality of the voice Deep philtrum Schizophrenia Duodenal atresia Interrupted aortic arch Ankyloglossia Abnormal eyelash morphology Aplasia/Hypoplasia of the tongue Narrow palm Chorioretinal dystrophy Thick hair Aplasia/Hypoplasia of the earlobes Abnormal eyelid morphology Hypoplasia of the zygomatic bone Weak cry Neoplasm Abnormality of the hip bone Cubitus valgus Reduced number of teeth Low anterior hairline Preauricular skin tag Gingival overgrowth Abnormality of retinal pigmentation Slender toe Immunodeficiency Decreased fetal movement Choanal atresia Tics Truncus arteriosus Bowel incontinence Language impairment Oculomotor apraxia Coxa valga Recurrent urinary tract infections Underdeveloped nasal alae Depressivity Premature birth Highly arched eyebrow Short distal phalanx of finger Short palm Toe syndactyly Hyperlordosis Recurrent respiratory infections Long eyelashes Neutropenia Hypoplasia of the musculature Cerebellar atrophy Small hand Thin vermilion border Abnormality of the cerebral white matter Craniosynostosis Autistic behavior Developmental regression Visual loss Visual impairment Full cheeks Calf muscle hypoplasia Congenital kyphoscoliosis Crumpled ear Patellar subluxation Iridodonesis Lens subluxation Spinal deformities Short foot Narrow forehead Tapered finger Arachnoid cyst Abnormality of skin pigmentation Delayed puberty Finger syndactyly Feeding difficulties in infancy Obesity Intestinal atresia Periventricular leukomalacia Curly hair Cerebral visual impairment Abnormality of coagulation Unilateral renal agenesis Sparse eyebrow Relative macrocephaly Infantile muscular hypotonia Hemivertebrae Horseshoe kidney Bilateral elbow dislocations



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Ulcerative colitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more