Ventricular septal defect, and Hypertrichosis

Diseases related with Ventricular septal defect and Hypertrichosis

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


Top matches:

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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Other less relevant matches:

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Low match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Low match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Low match DESBUQUOIS SYNDROME


Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

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

Symptoms // Phenotype % cases
Synophrys Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Microcephaly Short stature Seizures Clinodactyly of the 5th finger Short philtrum Downslanted palpebral fissures Clinodactyly Low-set ears Intellectual disability Failure to thrive Micrognathia Respiratory distress Talipes equinovarus Intrauterine growth retardation Muscular hypotonia Proptosis Brachydactyly Depressed nasal bridge Cryptorchidism Small for gestational age Brachycephaly Low-set, posteriorly rotated ears Hypertelorism Atrial septal defect

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Anteverted nares Echolalia Spasticity Specific learning disability Hepatomegaly Blue sclerae Ptosis Clitoral hypertrophy Dystonia Splenomegaly Patent ductus arteriosus Long eyelashes Abnormality of the kidney High palate Strabismus Everted lower lip vermilion Thin vermilion border Hearing impairment Postnatal growth retardation Deeply set eye Severe short stature Frontal bossing Epicanthus Long philtrum Protruding ear Pachygyria Thin upper lip vermilion Single transverse palmar crease Broad forehead Intellectual disability, severe Sparse hair Delayed skeletal maturation Prominent nasal bridge Finger syndactyly Short neck Optic atrophy Wide nasal bridge Scoliosis Ventriculomegaly Bulbous nose Hernia Apnea Thick eyebrow Polyhydramnios Anemia Thick vermilion border Asthma Small hand Ambiguous genitalia Pectus excavatum Hirsutism Obesity Round face Glaucoma Joint hyperflexibility Pes planus Joint laxity Camptodactyly of finger Pectus carinatum Flat face Short metacarpal Narrow chest Hip dislocation Hypotrichosis Optic disc pallor Macrocephaly Telecanthus Iris coloboma Polymicrogyria Severe global developmental delay Coloboma Craniosynostosis Camptodactyly Macrotia Tapered finger Cerebellar hypoplasia Constipation Hypospadias Hypoplasia of the corpus callosum Congenital megaureter Auricular pit Highly arched eyebrow Hypoplasia of the maxilla Corneal ulceration Oligodontia Corneal erosion Megalocornea Hypoplasia of the brainstem Bifid scrotum Sparse eyebrow Abnormality of the genitourinary system Pointed chin Wide intermamillary distance Progressive microcephaly Sparse and thin eyebrow Aganglionic megacolon Sparse scalp hair Broad thumb Sloping forehead Abnormality of the metaphysis Short femoral neck Short phalanx of finger Generalized hirsutism Short middle phalanx of finger Mutism Widely spaced teeth Cutaneous syndactyly Short chin Finger clinodactyly Bilateral single transverse palmar creases Dysphasia Postnatal microcephaly Decreased body weight Fine hair Small nail Microdontia Underdeveloped nasal alae Limitation of joint mobility Supernumerary nipple Aphasia Wide nose Cutaneous syndactyly of toes Frontal hirsutism Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Broad columella Narrow nasal bridge High anterior hairline Low hanging columella Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Abnormality of digit Hypodontia Smooth philtrum Coxa valga Elbow dislocation Broad foot Abnormal eyelash morphology Short clavicles Truncal obesity Hemifacial hypertrophy Acne Epiphyseal dysplasia Bell-shaped thorax Metaphyseal widening Radioulnar synostosis Relative macrocephaly Disproportionate short-limb short stature Short long bone Accelerated skeletal maturation Coxa vara Patellar dislocation Genu recurvatum Paraplegia Syndactyly Toe syndactyly Neurological speech impairment Intellectual disability, moderate Muscular hypotonia of the trunk High forehead Polydactyly Prominent forehead Hypertonia Broad ribs Cerebellar atrophy Visual impairment Abnormality of the femoral neck or head region Knee dislocation Advanced ossification of carpal bones Toe clinodactyly Aplasia/Hypoplasia of the abdominal wall musculature Posterior helix pit Severe receptive language delay Anterior creases of earlobe Coarctation of aorta Hydrops fetalis Decreased liver function Wide anterior fontanel Hepatic fibrosis Telangiectasia Pancytopenia Oligohydramnios Cutis laxa Abnormal bleeding Triangular face Cirrhosis Wide mouth Hydronephrosis Hepatosplenomegaly Situs inversus totalis Deep philtrum Edema Abnormality of the clitoris Abnormal heart morphology Arrhythmia Midface retrusion Short nose Abnormality of glutamine metabolism Increased serum bile acid concentration Infra-orbital crease Poor suck Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Dextrocardia Patent foramen ovale Thrombocytopenia Pulmonary artery hypoplasia Osteopenia Abnormality of movement Progressive spastic paraplegia Emotional lability Leukodystrophy Pigmentary retinopathy Increased serum lactate Progressive cerebellar ataxia Ophthalmoplegia Decreased activity of mitochondrial respiratory chain Hypertrophic cardiomyopathy Acidosis Dysarthria Hyperreflexia Peripheral neuropathy Nystagmus Increased CSF lactate Decreased activity of the pyruvate dehydrogenase complex Chronic lung disease Abnormal lung morphology Recurrent lower respiratory tract infections Scaphocephaly Cortical gyral simplification Multicystic kidney dysplasia Narrow face Recurrent urinary tract infections Congenital diaphragmatic hernia Focal T2 hyperintense basal ganglia lesion Decreased fetal movement Convex nasal ridge Long face Abnormal cardiac septum morphology Respiratory failure Recurrent respiratory infections Immunodeficiency Posteriorly rotated ears Conductive hearing impairment Asymmetry of the thorax Umbilical hernia Full cheeks Macroglossia Abdominal distention Hematuria Facial asymmetry Jaundice Mandibular prognathia Prominent nose Malar flattening Abnormality of the dentition Self-biting Severe expressive language delay Abnormality of brain morphology Gonadal dysgenesis Premature birth Overgrowth 2-3 toe syndactyly Capillary hemangioma Abdominal wall defect Visceromegaly Hemihypertrophy Mild global developmental delay Diastasis recti Abnormal eyebrow morphology Nevus flammeus Cardiomegaly Enlarged kidney Neonatal hypoglycemia Abnormality of the ureter Large for gestational age Nephroblastoma Abnormality of the outer ear Abnormality of the face Neurodevelopmental delay Unilateral renal agenesis Pulmonic stenosis Infantile muscular hypotonia Supraventricular tachycardia Pierre-Robin sequence Obstructive sleep apnea Proportionate short stature Transposition of the great arteries Sleep apnea Sandal gap Wolff-Parkinson-White syndrome Spina bifida occulta Short toe Dental crowding Palpitations Narrow forehead Tachycardia 11 pairs of ribs Spondylolisthesis Precocious puberty Aggressive behavior Drooling Stereotypy Tetralogy of Fallot Broad nasal tip Joint hypermobility Autistic behavior Hyperactivity Short 5th metacarpal Hypogonadism Absent speech Feeding difficulties Paroxysmal supraventricular tachycardia Prominent sternum Anterior open bite Perimembranous ventricular septal defect 2-4 toe syndactyly



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