Ventricular septal defect, and Low posterior hairline

Diseases related with Ventricular septal defect and Low posterior hairline

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

Top matches:

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Other less relevant matches:

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Medium match KBG SYNDROME

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

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

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

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Low posterior hairline

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Short neck Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Webbed neck

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Abnormal cardiac septum morphology Macrocephaly Cryptorchidism Abnormality of cardiovascular system morphology Downslanted palpebral fissures Atrial septal defect Patent ductus arteriosus Kyphosis Abnormal heart morphology Cleft palate Sensorineural hearing impairment Growth delay Feeding difficulties Abnormality of the skeletal system Vertebral fusion Pulmonic stenosis High palate Relative macrocephaly Micrognathia Epicanthus Delayed speech and language development Ptosis Hydrocephalus Pectus carinatum Hyperextensible skin Long philtrum Posteriorly rotated ears High, narrow palate Dandy-Walker malformation Brachydactyly Anteverted nares Pectus excavatum Delayed skeletal maturation Brachycephaly Muscular hypotonia Prominent forehead Syndactyly Inguinal hernia Conductive hearing impairment Intestinal malrotation

Rare Symptoms - Less than 30% cases

Abnormal vertebral morphology Accelerated skeletal maturation Unilateral renal agenesis Wormian bones Narrow palate Microretrognathia Thoracic kyphosis Cleft upper lip Bicuspid aortic valve Arnold-Chiari malformation Coarse hair Amblyopia Mixed hearing impairment Nasal speech Abnormality of the ribs Mitral valve prolapse Short nose Thin vermilion border Otitis media Joint hyperflexibility Hyperactivity Posterior fossa cyst Hyperlordosis Ventriculomegaly Strabismus Thickened helices Hydronephrosis Sprengel anomaly Hernia Renal agenesis Facial asymmetry Proptosis Kyphoscoliosis Enlarged cisterna magna Broad forehead Umbilical hernia Camptodactyly Cerebellar hypoplasia Osteopenia Clinodactyly Arachnoid cyst Fused cervical vertebrae Broad neck Dolichocephaly Joint hypermobility Iris coloboma Microtia Abnormality of the intervertebral disk Seizures Microcephaly Pes planus Osteoporosis Congenital muscular torticollis Cleft lip Wide nasal bridge Frontal bossing Limited neck range of motion Hypertrophic cardiomyopathy Smooth philtrum Thick eyebrow Abnormality of the pinna Cognitive impairment Sparse hair Cardiomyopathy Abnormality of the kidney Hyperpigmentation of the skin Anal atresia Flat face Failure to thrive Wide intermamillary distance Glaucoma Mitral regurgitation Short metacarpal Ectopic anus Abnormality of the hand Growth hormone deficiency Left ventricular hypertrophy Ventricular hypertrophy Decreased cervical spine mobility Telecanthus Macrotia Arnold-Chiari type I malformation Abnormally large globe Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Skeletal dysplasia High forehead Narrow nasal bridge Gastroesophageal reflux Congenital glaucoma Depressed nasal bridge Motor delay Postnatal growth retardation Patent foramen ovale Attention deficit hyperactivity disorder Prominent nasal bridge Neurological speech impairment Flexion contracture Hypotrichosis Hypoglycemia Low-set, posteriorly rotated ears Vomiting Hypothyroidism Carious teeth Ichthyosis Craniosynostosis Bilateral elbow dislocations Retrognathia Renal hypoplasia/aplasia Metacarpophalangeal joint hyperextensibility Elbow flexion contracture Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Cutis laxa Sandal gap Joint dislocation Meningitis Restrictive ventilatory defect Lymphedema Rhizomelia Abnormal lung morphology Blue sclerae Cardiomegaly Congenital diaphragmatic hernia Microdontia Esotropia Thoracic hypoplasia Aortic root aneurysm Broad distal phalanges of all fingers Talipes equinovalgus Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Cyanosis Upper limb undergrowth Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Knee dislocation Hypoplastic toenails Eczema Large fontanelles Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Hemivertebrae Horseshoe kidney Aortic valve stenosis Preauricular skin tag Cerebellar vermis hypoplasia Prominent occiput Hypoplasia of penis Limb undergrowth Tetralogy of Fallot Decreased antibody level in blood Bifid uvula Postural instability Oral cleft Toe syndactyly Finger syndactyly Hypoplastic left heart Mesomelia Feeding difficulties in infancy Abnormal mitral valve morphology Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Hypoplastic fingernail Abnormality of the hip bone Mitral stenosis Communicating hydrocephalus Single umbilical artery Missing ribs Pierre-Robin sequence Double outlet right ventricle Adrenal hypoplasia Posterior embryotoxon Atrioventricular canal defect Coloboma Recurrent respiratory infections Coarctation of aorta Optic nerve hypoplasia Neurodevelopmental delay Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Right bundle branch block Arachnodactyly Overfolded helix Failure to thrive in infancy Deep philtrum Increased intracranial pressure Natal tooth Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Cafe-au-lait spot Thin skin Sparse scalp hair Thick lower lip vermilion Freckling Atopic dermatitis Alopecia Superior pectus carinatum Hypospadias Dilatation Immunodeficiency Optic atrophy Intrauterine growth retardation Abnormality of the nasal bridge Broad fingertip Loose anagen hair Abnormal location of ears Dermal translucency Abnormality of the elbow Abnormality of the pulmonary artery Peripheral pulmonary artery stenosis Slow-growing hair Abnormality of refraction Redundant neck skin Abnormality of the testis Hypomagnesemia Fragile nails Hiatus hernia Recurrent fractures Atresia of the external auditory canal Talipes Abnormal eyebrow morphology Long toe Unilateral cryptorchidism Shield chest Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Posterior subcapsular cataract Dysplastic aortic valve Iris hypopigmentation Subcapsular cataract Long fingers Preauricular pit Hemiplegia Increased susceptibility to fractures Decreased body weight Aplasia/Hypoplasia of the lens Left hemiplegia Retinal detachment Convex nasal ridge Intellectual disability, mild Abnormality of the dentition Rocker bottom foot Protruding tongue Broad hallux Overlapping toe Wide anterior fontanel Broad nasal tip Bimanual synkinesia Short distal phalanx of finger Pulmonary hypoplasia Poor speech Short philtrum Upslanted palpebral fissure External ear malformation Stiff neck Lumbar hyperlordosis Unsteady gait Constipation Polydactyly Abnormality of the cardiovascular system Mild conductive hearing impairment Leukemia Polyhydramnios Hyperkeratosis Cervicomedullary schisis Edema Postaxial polydactyly Pleural effusion Spina bifida Aplasia of the ulna Abnormal sacrum morphology Abnormality of the shoulder Short sternum Abnormal cranial nerve morphology Abnormality of the vertebral column Systemic lupus erythematosus Abnormality of the sternum Congenital cataract Cataract Platyspondyly Visual loss Depressivity Microphthalmia Myopia Visual impairment Spasticity Moderate hearing impairment Curly hair Muscle weakness Nystagmus Abnormality of limb bone morphology Palmoplantar cutis laxa Chylothorax Graves disease Acute lymphoblastic leukemia Abnormality of the genitourinary system Autism Genu valgum Syringomyelia Platybasia Low back pain Generalized osteosclerosis Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Meningocele Prominent metopic ridge Tethered cord Thickened calvaria Slender long bone Neurofibromas Back pain Hemiplegia/hemiparesis Sleep apnea Osteolysis Biconcave vertebral bodies Sclerosis of skull base Narrow face Midface retrusion Abnormality of the foot Narrow chest Hypermetropia Hip dislocation Joint laxity Narrow mouth Cerebral cortical atrophy Congestive heart failure Large sella turcica Respiratory distress Talipes equinovarus Fever Short nasal bridge Basilar impression Abnormality of the middle ear ossicles Dural ectasia Increased bone mineral density Dental crowding Thin upper lip vermilion Round face Radial deviation of finger Short long bone Oligodontia Low anterior hairline Hypoplasia of dental enamel Hip dysplasia Underdeveloped nasal alae Triangular face Short femoral neck Single transverse palmar crease Synophrys Autistic behavior Protruding ear Intellectual disability, moderate Aggressive behavior Anxiety Flat occiput Long palpebral fissure Abnormal form of the vertebral bodies Pain Abnormality of the skin Urinary incontinence Scarring Apnea Malar flattening Gait disturbance Peripheral neuropathy Vertebral arch anomaly Megalocornea Widely-spaced maxillary central incisors Cervical ribs Macrodontia Recurrent ear infections Rib fusion Broad face Beaking of vertebral bodies Chronic constipation Primum atrial septal defect


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