Hydrocephalus, and Genu valgum

Diseases related with Hydrocephalus and Genu valgum

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

Top matches:

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Other less relevant matches:

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG 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

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Genu valgum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Umbilical hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Scoliosis Metatarsus adductus Micrognathia Hernia Abnormality of the dentition Ventriculomegaly Cryptorchidism Macrocephaly Global developmental delay Abnormal facial shape Hepatosplenomegaly Hypoplasia of the maxilla Inguinal hernia Mandibular prognathia Conductive hearing impairment High palate Flexion contracture Coarse facial features Thoracic kyphosis Opacification of the corneal stroma Osteopenia Hepatomegaly Patent ductus arteriosus Respiratory distress Splenomegaly Kyphosis Dilatation Neurodegeneration Low-set ears Edema Recurrent infections Telecanthus Short neck Anteverted nares Hirsutism Growth delay Increased bone mineral density Downslanted palpebral fissures Epicanthus Protruding ear Hip dysplasia Recurrent fractures Anemia Strabismus Ptosis Depressed nasal bridge Frontal bossing Malar flattening Midface retrusion Proptosis Abnormality of the pinna Craniosynostosis Brachycephaly Generalized hypotonia Seizures Kyphoscoliosis Optic atrophy Blindness

Rare Symptoms - Less than 30% cases

Macroglossia Abnormal form of the vertebral bodies Thick eyebrow Joint hypermobility Synophrys Abnormal cardiac septum morphology Paralysis Pectus excavatum Abnormal heart morphology Lumbar hyperlordosis Camptodactyly Narrow chest Joint laxity Cloverleaf skull Joint contracture of the hand Intestinal malrotation Thickened skin Recurrent upper respiratory tract infections Metaphyseal widening Cranial asymmetry Hypogonadism Abnormal heart valve morphology Hypoplasia of the odontoid process Obstructive sleep apnea Mixed hearing impairment Broad ribs Atrial septal defect Dental malocclusion Tetraplegia Aseptic necrosis Dolichocephaly Prominent sternum Corneal opacity Dermatan sulfate excretion in urine Spastic tetraplegia Joint stiffness Apnea Hypothyroidism Cognitive impairment Intellectual disability, severe Cardiomyopathy Motor delay Abnormality of the metaphysis Bowing of the long bones Talipes equinovarus Short distal phalanx of finger Hypertonia Intellectual disability, mild Polyhydramnios Pectus carinatum Dysostosis multiplex Cervical instability Basilar impression Generalized osteoporosis Dislocated radial head Recurrent ear infections Osteolysis Mild short stature Flared iliac wings Skeletal dysplasia Osteomyelitis Polydactyly Visual loss Obesity Renal insufficiency Ventricular septal defect Brachydactyly Cranial hyperostosis Cleft palate Persistence of primary teeth Extramedullary hematopoiesis Facial paralysis Osteopetrosis Hypocalcemia Postaxial hand polydactyly Bone marrow hypocellularity Pancytopenia Carious teeth Thrombocytopenia Visual impairment Hallux varus Syndactyly Preaxial foot polydactyly Turricephaly Narrow mouth Shallow orbits Underdeveloped supraorbital ridges Abnormal palate morphology Postaxial polydactyly Mandibular osteomyelitis Lateral clavicle hook Osteoporosis Failure to thrive Headache Clinodactyly of the 5th finger Clinodactyly Abnormality of cardiovascular system morphology Cerebral atrophy Sensorineural hearing impairment C1-C2 vertebral abnormality Minimal subcutaneous fat Abdominal wall muscle weakness Torus palatinus Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Dermal translucency Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Posterior scalloping of vertebral bodies Truncal obesity Convex nasal ridge Posterior polar cataract Sacral dimple Aplasia/Hypoplasia of the corpus callosum Ectopic calcification Narrow iliac wings Abnormal glucose tolerance Cutaneous syndactyly Spina bifida occulta Coxa valga Absent axillary hair Pulmonic stenosis Broad thumb Omphalocele Limb undergrowth Motor tics Tetralogy of Fallot Microcornea Talipes Toe syndactyly Hydronephrosis Communicating hydrocephalus Spondylolisthesis Bifid uvula Amblyopia Acanthosis nigricans Mitral regurgitation Choanal atresia Blue sclerae Absent facial hair Interphalangeal joint contracture of finger Mitral valve prolapse High, narrow palate Epidermal acanthosis Arachnodactyly Increased size of the mandible Calcification of the auricular cartilage Joint hyperflexibility Abnormality of the foot Camptodactyly of finger Feeding difficulties in infancy Short metatarsal Wide anterior fontanel Narrow palate Delayed gross motor development Slender finger Missing ribs Genu recurvatum Microglossia Arnold-Chiari type I malformation Aortic root aneurysm Anteriorly placed anus Thin ribs Fragile skin Abnormality of the sternum Aortic regurgitation Disproportionate tall stature Hammertoe Elbow dislocation Aortic aneurysm Ectopia lentis Hyperextensible skin Arnold-Chiari malformation Infantile muscular hypotonia Bone cyst Tics Anonychia Diabetes mellitus Abnormal pyramidal sign Developmental regression Aggressive behavior Ankle clonus Deeply set eye Macrotia Autism Gait ataxia Basal ganglia calcification Broad forehead Pes cavus Agenesis of corpus callosum Babinski sign Areflexia Microphthalmia Behavioral abnormality Myopathy Hypoplasia of the corpus callosum Prominent nasal bridge Congenital cataract Skeletal muscle atrophy Hypergonadotropic hypogonadism Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Clonus Distal amyotrophy Gynecomastia Sparse scalp hair Thick lower lip vermilion Bradykinesia Cerebral calcification Otitis media Nevus Downturned corners of mouth Gait disturbance Peripheral neuropathy Genu varum Agenesis of permanent teeth Restlessness Insulin-resistant diabetes mellitus Double outlet right ventricle Foot polydactyly Pes planus Transposition of the great arteries Irregular vertebral endplates Cystic hygroma Poor coordination Polysplenia External genital hypoplasia Progressive gait ataxia Hydroureter Broad face Preauricular pit Precocious puberty Preaxial polydactyly Dystrophic fingernails Coronal craniosynostosis Striae distensae Cataract Large foramen magnum Neoplasm Ataxia 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 Aplasia/Hypoplasia of the middle phalanges of the toes Multiple suture craniosynostosis Craniofacial asymmetry Hip contracture Aplasia/Hypoplasia of the middle phalanges of the hand Shallow acetabular fossae Accessory spleen Abdominal wall defect Lambdoidal craniosynostosis Oxycephaly Sparse body hair Sagittal craniosynostosis Congenital hypothyroidism Low-set, posteriorly rotated ears Decreased pulmonary function Retrognathia Retinal dystrophy Recurrent urinary tract infections Stage 5 chronic kidney disease Osteoarthritis Ectodermal dysplasia Hepatic failure Facial palsy Arthritis Pneumonia Immunodeficiency Lymphedema Cerebellar vermis hypoplasia Muscle weakness Nystagmus Cholestasis Short phalanx of finger Cheyne-Stokes respiration Elongated sella turcica Tall lumbar vertebral bodies Abnormality of epiphysis morphology Bone pain Serpentine fibula Fractures of the long bones Nyctalopia Retinal degeneration Abnormality of the vertebral endplates Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Hip osteoarthritis Generalized osteosclerosis Joint dislocation Abnormal cranial nerve morphology Oral cleft Rhinitis Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Crowded carpal bones Bilateral vocal cord paralysis Glaucoma Renal cyst Wormian bones Abnormal vertebral morphology Long eyelashes Abnormality of the face Cone-shaped epiphysis Glucose intolerance Thoracic hypoplasia Full cheeks Wide nose Chronic kidney disease Visual field defect Nephronophthisis Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Pain Long philtrum Hypospadias Narrow palpebral fissure Short long bone Foot acroosteolysis Short ribs Basilar invagination Rhizomelia Hepatic fibrosis Large sella turcica Absent frontal sinuses Short nail Platybasia Biconcave vertebral bodies Large earlobe Delayed cranial suture closure Osteolytic defects of the phalanges of the hand Vertebral compression fractures Vocal cord paralysis Radial bowing Premature loss of teeth Proportionate short stature Oculomotor apraxia Vertebral fusion Pathologic fracture Cleft lip Retinopathy High forehead Hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Hyperactive deep tendon reflexes Spondyloepiphyseal dysplasia Pleural effusion Pterygium Widely spaced teeth Cardiac arrest Gingival overgrowth Split foot Broad-based gait Hypertrichosis Webbed neck Ascites Vertigo Facial asymmetry Poor speech Platyspondyly Nonimmune hydrops fetalis Pulmonary insufficiency Postnatal growth retardation Microcephaly Gastroesophageal reflux 2-3 toe syndactyly Prominent forehead Posteriorly rotated ears Constipation Broad hallux Myopia Muscular hypotonia Anterior beaking of lower thoracic vertebrae Thoracolumbar kyphosis Proximal tapering of metacarpals Anterior beaking of lumbar vertebrae Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Acetabular dysplasia Respiratory tract infection Hyperlordosis Respiratory insufficiency Spastic tetraparesis Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Coxa vara Spinal canal stenosis Metaphyseal irregularity Epiphyseal dysplasia Sleep apnea Accelerated skeletal maturation Myelopathy Aortic valve stenosis Decreased body weight Split hand Progressive neurologic deterioration Tetraparesis Diaphyseal sclerosis Waddling gait Chronic rhinitis due to narrow nasal airway Constrictive median neuropathy Retinal fold Intellectual disability, moderate Symphalangism affecting the phalanges of the hand Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Abnormality of the nervous system Broad hallux phalanx Dyspnea Severe short stature Arrhythmia Short nose Abnormality of fibula morphology Cervical myelopathy Anterior plagiocephaly Craniofacial dysostosis Broad metatarsal Spasticity Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Calcaneonavicular fusion Cervical cord compression Superiorly displaced ears


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