Hydrocephalus, and Pulmonic stenosis

Diseases related with Hydrocephalus and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Pulmonic stenosis that can help you solving undiagnosed cases.

Top matches:

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Other less relevant matches:

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter SyndromeCarpenter syndrome-2 (CRPT2 ), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (OMIM ).

CARPENTER SYNDROME 1; CRPT1 Is also known as carpenter syndrome|acrocephalopolysyndactyly type ii|acps ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARPENTER SYNDROME 1; CRPT1

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

High 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 Hydrocephalus and Pulmonic stenosis

Symptoms // Phenotype % cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Pulmonic stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

Abnormal cardiac septum morphology

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Short stature Scoliosis Double outlet right ventricle Muscular hypotonia Downslanted palpebral fissures Depressed nasal bridge Macrocephaly Dilatation Patent ductus arteriosus Ventriculomegaly Brachydactyly Micrognathia Cleft palate Syndactyly Intrauterine growth retardation Brachycephaly Prominent forehead Abnormal facial shape Cerebellar hypoplasia Delayed speech and language development Strabismus Hearing impairment Abnormality of the pinna Seizures Microcephaly Cryptorchidism Respiratory distress Agenesis of corpus callosum Growth hormone deficiency Ptosis Polyhydramnios Feeding difficulties Preauricular skin tag Coarctation of aorta Hypoplasia of the corpus callosum Intestinal malrotation Thin vermilion border Dolichocephaly Abnormality of the kidney High forehead Hemivertebrae Hydronephrosis Retrognathia Hernia Talipes Webbed neck Short nose Anteverted nares High palate Postnatal growth retardation Microtia Pachygyria Hypoplastic left heart Toe syndactyly Sparse hair Flexion contracture Motor delay Optic atrophy Microphthalmia Low posterior hairline Midface retrusion Transposition of the great arteries Cerebellar vermis hypoplasia Tetralogy of Fallot Patent foramen ovale Glaucoma

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the corpus callosum Cortical dysplasia Abnormally large globe Gastroesophageal reflux Cataract Camptodactyly Craniosynostosis Encephalocele Limb undergrowth Hypermetropia Hip dislocation Pectus excavatum Dandy-Walker malformation Genu valgum EEG abnormality High, narrow palate Pectus carinatum Umbilical hernia Endocardial fibroelastosis Small nail Large fontanelles Microretrognathia Pierre-Robin sequence Mitral regurgitation Redundant neck skin Failure to thrive Congenital glaucoma Abnormality of the skeletal system Talipes equinovarus Esotropia Alopecia Osteopenia Prominent nasal bridge Finger syndactyly Postural instability Narrow chest Kyphoscoliosis Clinodactyly Epicanthus Metatarsus adductus Cardiomyopathy Vomiting Wide nasal bridge Hypospadias Frontal bossing Narrow nasal bridge Telecanthus Bicuspid aortic valve Meningitis Aortic valve stenosis Enlarged cisterna magna Inguinal hernia Delayed skeletal maturation Hypoplastic fingernail Polymicrogyria Hypertrophic cardiomyopathy Hand polydactyly Arnold-Chiari type I malformation Atrioventricular canal defect Proximal placement of thumb Cognitive impairment Posteriorly rotated ears Nasal speech Hyperactivity Horseshoe kidney Relative macrocephaly Joint laxity Attention deficit hyperactivity disorder Ichthyosis Deep philtrum Eczema Sparse scalp hair Arnold-Chiari malformation Hyperpigmentation of the skin Deep palmar crease Slow-growing hair Anal atresia Partial agenesis of the corpus callosum Thoracic hemivertebrae Malar flattening Optic nerve hypoplasia Polydactyly Holoprosencephaly Macrotia Cleft lip Neurodevelopmental delay Broad neck Postaxial hand polydactyly Loose anagen hair Oral cleft Hypoplasia of the maxilla Postaxial polydactyly Abnormality of the foot Pes planus Arachnodactyly Proptosis Thick eyebrow Complete atrioventricular canal defect Flat face Peripheral pulmonary artery stenosis Aplasia/Hypoplasia of the nipples Microdontia Abnormal lung morphology Abnormality of neuronal migration Blue sclerae Prominent occiput Mesomelia Abnormality of the hip bone Cardiomegaly Congenital diaphragmatic hernia Mitral valve prolapse Posterior embryotoxon Abnormal mitral valve morphology Short metacarpal Adrenal hypoplasia Missing ribs Recurrent fractures Single umbilical artery Ectopic anus Communicating hydrocephalus Mitral stenosis Narrow mouth Lethal skeletal dysplasia Fever Abnormal tricuspid valve morphology Hydroureter Polysplenia Coronal craniosynostosis Turricephaly Foot polydactyly Underdeveloped supraorbital ridges Cystic hygroma Agenesis of permanent teeth Mixed hearing impairment External genital hypoplasia Facial hemangioma Flared iliac wings Mild short stature Preauricular pit Precocious puberty Preaxial polydactyly Genu varum Humoral immunodeficiency Delayed gross motor development Cerebellar malformation Sacral dimple Cutaneous syndactyly Preaxial foot polydactyly Cloverleaf skull Cerebral cortical atrophy Aplasia/Hypoplasia of the middle phalanges of the toes Osteoporosis Abnormality of the fontanelles or cranial sutures Posterior fossa cyst Congestive heart failure Contractures of the large joints Amblyopia Duplication of the proximal phalanx of the hallux Lateral displacement of patellae Pseudoepiphyses of the proximal phalanges of the hand Complete duplication of proximal phalanx of the thumb Multiple suture craniosynostosis Sagittal craniosynostosis Large foramen magnum Craniofacial asymmetry Cranial asymmetry Aplasia/Hypoplasia of the middle phalanges of the hand Shallow acetabular fossae Accessory spleen Abdominal wall defect Persistence of primary teeth Lambdoidal craniosynostosis Oxycephaly Left ventricular hypertrophy Radioulnar synostosis Unilateral renal agenesis Opacification of the corneal stroma Overfolded helix Failure to thrive in infancy Coarse hair Increased intracranial pressure Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Cafe-au-lait spot Recurrent respiratory infections Thin skin Thick lower lip vermilion Ventricular hypertrophy Feeding difficulties in infancy Cyanosis Coloboma Wide intermamillary distance Broad forehead Joint hypermobility Skeletal dysplasia Hypoplastic toenails Hypotrichosis Hiatus hernia Abnormality of the testis Thickened helices Hypomagnesemia Abnormality of the pulmonary artery Fragile nails Dermal translucency Abnormality of the intervertebral disk Superior pectus carinatum Abnormal location of ears Abnormality of the elbow Right bundle branch block Broad fingertip Atopic dermatitis Abnormality of the nasal bridge Natal tooth Kyphosis Freckling Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Immunodeficiency Carious teeth Low-set, posteriorly rotated ears Rhizomelia Abnormality of refraction Aortic root aneurysm Renal agenesis Hypoplasia of penis Restrictive ventilatory defect Wormian bones Thoracic hypoplasia Narrow palate Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Abnormality of the hand Upper limb undergrowth Hyperextensible skin Cutis laxa Chorioretinal coloboma Sandal gap Accelerated skeletal maturation Joint dislocation Aplasia/Hypoplasia of the cerebellum Elbow flexion contracture Lymphedema Decreased antibody level in blood Bifid uvula Hypoglycemia Hypertropia Hypothyroidism Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Neurological speech impairment Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Shoulder dislocation Iris coloboma Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Spina bifida occulta Thrombocytopenia Coxa valga Respiratory insufficiency Muscular dystrophy Camptodactyly of finger Apnea Neonatal hypotonia Rigidity Elevated serum creatine phosphokinase Areflexia Myopathy Intellectual disability, severe Gait disturbance Abnormality of the cerebral white matter Skeletal muscle atrophy Myopia Visual impairment Muscle weakness Isomerism Bilateral trilobed lungs Bronchogenic cyst Bilateral radial aplasia Arteria lusoria Dilated cardiomyopathy Arthrogryposis multiplex congenita Urethral atresia Hypoplasia of the brainstem Atrophy/Degeneration affecting the brainstem Weak cry Spinal rigidity Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Congenital muscular dystrophy Congenital cataract Plagiocephaly Lissencephaly Knee flexion contracture EMG abnormality Congenital hip dislocation Bradycardia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Persistent left superior vena cava Pancreatic hypoplasia Ankle contracture Skin tags Semilobar holoprosencephaly Single median maxillary incisor Wide cranial sutures Median cleft lip and palate Anterior pituitary hypoplasia Panhypopituitarism Large forehead Abnormal cortical gyration Bilateral cleft lip and palate Bilateral cleft lip Alobar holoprosencephaly Median cleft lip Anophthalmia Heart murmur Hypotelorism Sloping forehead Dental malocclusion Pulmonary hypoplasia Short philtrum Micropenis Prominent antihelix Hypoplasia of the premaxilla Heterotaxy Abnormal vertebral morphology Aqueductal stenosis Asplenia Enlarged kidney Esophageal atresia Absent radius Short humerus Abnormality of the vertebral column Tracheoesophageal fistula Atresia of the external auditory canal Short thumb Underdeveloped tragus Small posterior fossa Megalencephaly Redundant skin Long eyelashes Diastolic heart murmur Asymmetric ventricles Agenesis of incisor Anterior pituitary agenesis Short hard palate Single naris Anencephaly Retinal dysplasia Joint contracture of the hand Central hypotonia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Pulmonary artery stenosis Oligodactyly Aplasia cutis congenita of scalp Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Leukopenia Telangiectasia Periventricular leukomalacia Chylothorax Hemiparesis Sensorineural hearing impairment Broad thumb Omphalocele Microcornea Conductive hearing impairment Hypogonadism Clinodactyly of the 5th finger Obesity Cerebral atrophy Abnormality of the dentition Aplasia cutis congenita on trunk or limbs Aplastic/hypoplastic toenail Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Split hand Pulmonary arterial hypertension Myocardial fibrosis Respiratory failure Abnormality of the genital system Short palpebral fissure Oligohydramnios Full cheeks Abdominal distention Downturned corners of mouth Hirsutism Short palm Blepharophimosis Dysphagia Narrow palpebral fissure Hypoplasia of the pyramidal tract Cephalocele Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Wide anterior fontanel Sparse eyelashes Nail dysplasia Laryngeal hypoplasia Gastrointestinal hemorrhage Premature birth Ascites Short distal phalanx of finger Cirrhosis Cleft upper lip Leukemia Hypertonia Hypertension Bronchomalacia Abnormality of the genitourinary system Anotia Extramedullary hematopoiesis Entropion Abnormality of the larynx Cleft soft palate Tracheal stenosis Tracheomalacia Anteriorly placed anus Bilateral cryptorchidism Neonatal respiratory distress Primum atrial septal defect


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