Hydrocephalus, and Hip dislocation

Diseases related with Hydrocephalus and Hip dislocation

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

Top matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Other less relevant matches:

Medium match FUHRMANN SYNDROME

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

FUHRMANN SYNDROME Is also known as fuhrmann syndrome|fuhrmann-rieger-de sousa syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome

Related symptoms:

  • Short stature
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FUHRMANN SYNDROME

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Medium match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hip dislocation

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Congenital hip dislocation Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Micrognathia Cleft palate Strabismus Cryptorchidism Microphthalmia Abnormality of cardiovascular system morphology Abnormal heart morphology Short stature Abnormality of the skeletal system Talipes equinovarus Abnormal facial shape Postaxial hand polydactyly Deeply set eye Toe syndactyly Hypospadias Seizures Downslanted palpebral fissures Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Cataract Muscular hypotonia Inguinal hernia Hypertonia Facial palsy Abnormality of the pinna Hydronephrosis Gastroesophageal reflux Redundant skin Renal hypoplasia/aplasia Intellectual disability, mild Fibular aplasia Microglossia Hypoplastic iliac wing Syndactyly Hearing impairment Polydactyly Finger syndactyly Postaxial polydactyly Renal hypoplasia Renal dysplasia Camptodactyly Microcephaly Generalized hypotonia Myopia Ventriculomegaly Prominent forehead Agenesis of corpus callosum Intrauterine growth retardation Failure to thrive Renal agenesis Scoliosis Bowing of the long bones Joint contracture of the hand Hypoplasia of the radius Occipital encephalocele Microcornea Abnormality of the kidney Stenosis of the external auditory canal Retrognathia Conductive hearing impairment Flat face Long face Vesicoureteral reflux Abnormality of the fallopian tube Preauricular skin tag Atrial fibrillation Microtia, third degree Bilateral sensorineural hearing impairment Intestinal malrotation Oligohydramnios Bifid uvula Microdontia Microtia Sensorineural hearing impairment High palate Dysphagia Paralysis Renal insufficiency Hemivertebrae Absence of the sacrum Abnormality of calvarial morphology Respiratory failure Respiratory insufficiency Anemia 1-3 toe syndactyly Duplication of the distal phalanx of hand 3-4 finger syndactyly Camptodactyly of toe Anal atresia Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx Polyhydramnios Abnormal form of the vertebral bodies Radial club hand Esophageal atresia Arrhinencephaly Femoral hernia Anotia Aqueductal stenosis Abnormality of the optic nerve Single umbilical artery Abnormality of the vertebral column Encephalocele Absent thumb Tracheoesophageal fistula Anophthalmia Abnormality of the outer ear Spina bifida Abnormal vertebral morphology Narrow face Body odor Multicystic kidney dysplasia Narrow palpebral fissure Short femur Hypoplastic scapulae Bell-shaped thorax Dislocated radial head Mesomelia 2-3 toe syndactyly Elbow flexion contracture Redundant neck skin Rhizomelia Short palpebral fissure Low posterior hairline Blepharophimosis Posteriorly rotated ears Severe short stature Hypoplastic ilia Ambiguous genitalia, male Short neck Alveolar ridge overgrowth Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Mesomelic leg shortening Microtia, first degree Facial hirsutism Hydranencephaly 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Long clavicles Humeroradial synostosis Wrist flexion contracture Clinodactyly of the 5th finger Brachydactyly Atresia of the external auditory canal Lacrimation abnormality Abnormality of finger Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction External ear malformation Arteria lusoria Mixed hearing impairment Premature graying of hair Ectopic kidney Preauricular pit Epiphora Cupped ear Polycystic kidney dysplasia Branchial cyst Branchial fistula Low-set ears Abnormality of the cerebrum Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the renal collecting system Renal malrotation Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation High anterior hairline High forehead Postaxial foot polydactyly Radial bowing Abnormality of the upper urinary tract Abnormal hair quantity First degree atrioventricular block Hernia of the abdominal wall Flexion contracture Clinodactyly Cleft lip Nail dysplasia Amenorrhea Limb undergrowth Femoral bowing Short finger Ulnar deviation of finger Oligodactyly Hypoplastic pelvis Abnormality of the endocrine system Aplasia/hypoplasia of the femur Growth delay Aplasia/Hypoplasia of the 5th finger Coalescence of tarsal bones Aplasia/Hypoplasia of metatarsal bones Abnormal finger flexion creases Aplasia/Hypoplasia of the phalanges of the hand Aplasia/Hypoplasia involving the metacarpal bones Communicating hydrocephalus Aplasia/Hypoplasia of the fibula Foot oligodactyly Absent toenail Aplasia/Hypoplasia of the ulna Hand oligodactyly Patellar aplasia Testicular atrophy Non-midline cleft lip Malar flattening Chronic diarrhea Increased head circumference Congenital muscular torticollis Facial hypotonia Pyloric stenosis Tented upper lip vermilion Torticollis Open mouth Depressed nasal bridge Narrow forehead Overgrowth Poor speech Hypoglycemia Absent speech Diarrhea Neoplasm Short nose Mask-like facies Hypothalamic hamartoma Myotonia Intellectual disability, progressive EMG abnormality Intellectual disability, severe Respiratory distress Skeletal muscle atrophy Glioma Micropenis Anterior hypopituitarism Median cleft lip Hamartoma Short ribs Micromelia Skeletal dysplasia Epicanthus Midface retrusion Foot polydactyly Wide nasal bridge Hirsutism Confusion Craniosynostosis Telecanthus Umbilical hernia Hernia Delayed speech and language development Congenital diaphragmatic hernia Cognitive impairment Constrictive median neuropathy Relative macrocephaly Schizophrenia Hallucinations Tetralogy of Fallot Postural instability Broad thumb Hip dysplasia Large for gestational age Scaphocephaly Cutaneous finger syndactyly Abnormality of digit Partial agenesis of the corpus callosum Delayed cranial suture closure Broad hallux Preaxial hand polydactyly Accelerated skeletal maturation Hyperglycemia Trigonocephaly Hand polydactyly Preaxial polydactyly Cutaneous syndactyly Plagiocephaly Specific learning disability Arthrogryposis multiplex congenita Osteoporosis Joint hypermobility Blue sclerae Hypotelorism Triangular face Hypoplasia of the maxilla Recurrent fractures Bulbous nose Broad forehead Cutis laxa Protruding ear Postnatal growth retardation Joint laxity Osteopenia Mandibular prognathia Brachycephaly Large fontanelles Growth abnormality Attention deficit hyperactivity disorder Behavioral abnormality Autistic behavior Intellectual disability, moderate Anxiety Autism Glaucoma Hyperactivity Atrial septal defect Premature skin wrinkling Hypoplasia of the corpus callosum Spasticity Abnormal glycosylation Narrow nasal ridge Colpocephaly Prominent superficial veins Abnormality of the joint spaces of the elbow


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