Hydrocephalus, and Joint hypermobility

Diseases related with Hydrocephalus and Joint hypermobility

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


Top matches:

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


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

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Other less relevant matches:

Low match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Low match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Low match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Joint hypermobility

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Joint hypermobility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Joint hyperflexibility

Uncommon Symptoms - Between 30% and 50% cases


Seizures Muscular hypotonia Downslanted palpebral fissures Depressed nasal bridge Short stature Failure to thrive Intrauterine growth retardation Abnormal facial shape Midface retrusion Generalized hypotonia Growth delay Myopia Brachydactyly Kyphosis Severe short stature Abnormality of the metaphysis Hearing impairment Strabismus Bowing of the long bones Proptosis Bulbous nose Hypertelorism Visual impairment Facial asymmetry

Rare Symptoms - Less than 30% cases


Retinal detachment Narrow chest Large forehead Ectopia lentis Relative macrocephaly High myopia Motor delay Craniosynostosis Retrognathia Patent ductus arteriosus Polyhydramnios Atrial septal defect Hypertension Colpocephaly Redundant skin Cutis laxa Lens luxation Blue sclerae Recurrent fractures Micromelia Edema Coloboma Flared metaphysis Abnormality of the kidney Glaucoma Vesicoureteral reflux Progressive visual loss Cataract Occipital encephalocele Macular degeneration Macular hypoplasia Nystagmus Encephalocele Disproportionate short-limb short stature Communicating hydrocephalus Wormian bones Chorioretinal atrophy Acanthosis nigricans Abnormal form of the vertebral bodies Abnormality of the ribs Microdontia Skeletal dysplasia Sensorineural hearing impairment Bruising susceptibility Abnormality of the skeletal system Polymicrogyria Deeply set eye Scoliosis Micrognathia Epicanthus Malar flattening Agenesis of corpus callosum Prominent forehead Optic atrophy Pectus excavatum Hypoplasia of the corpus callosum Anteverted nares Microcephaly Joint laxity Osteopenia Gastroesophageal reflux Meningocele Severe short-limb dwarfism Wide-cupped costochondral junctions Small foramen magnum Small abnormally formed scapulae Vitreoretinopathy Short sacroiliac notch Lethal short-limbed short stature Anomalous pulmonary venous return Calvarial skull defect Hyperreflexia Periventricular gray matter heterotopia Acute lymphoblastic leukemia Aplasia cutis congenita Absent septum pellucidum Dysarthria Increased nuchal translucency Obesity Hyperhidrosis Conductive hearing impairment Apnea Cortical dysplasia Hyperlordosis Joint stiffness Neurological speech impairment Aplasia cutis congenita of scalp Lymphangioma Total anomalous pulmonary venous return Holoprosencephaly Recurrent pyelonephritis Ureterovesical junction obstruction Cognitive impairment Respiratory insufficiency Bifid ureter Platyspondyly Flat face Limitation of joint mobility Decreased fetal movement Occipital meningocele Short ribs Peripapillary atrophy Exudative retinal detachment Band keratopathy Cerebellar malformation Metaphyseal irregularity Abnormality of neuronal migration Abnormal vitreous humor morphology Short thorax Phthisis bulbi Sudden cardiac death Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Small face Cloverleaf skull Short palm Dextrocardia Dental malocclusion Pulmonary hypoplasia Childhood onset short-limb short stature Abnormality of the ilium Alopecia Acromelia Visual loss Hernia Cerebellar hypoplasia Orbital cyst Posteriorly rotated ears Cleft lip Abnormal cardiac septum morphology Cerebral atrophy Hepatic failure Iris coloboma Narrow sacroiliac notch Intestinal malrotation Dandy-Walker malformation Congenital diaphragmatic hernia Cholestasis Cerebellar atrophy Heterotopia Wide anterior fontanel Blindness Ataxia Microretrognathia Lissencephaly Cortical gyral simplification Abnormal cortical gyration Mental deterioration Nyctalopia Limb undergrowth Retinal degeneration Lumbar hyperlordosis Dental crowding Rhizomelia Severe hydrocephalus Clonus Pyloric stenosis Corneal dystrophy Horizontal nystagmus Short long bone Narrow face Abnormality of the hair Pachygyria Thin skin Genu varum Aplasia/hypoplasia of the extremities Abnormality of pelvic girdle bone morphology Congenital cataract Elbow dislocation Chronic otitis media Mesomelia Limited elbow extension Disproportionate short stature Spinal canal stenosis Obstructive sleep apnea Abnormality of the elbow Leukemia Diaphyseal thickening Neonatal short-limb short stature Long thorax Macular hyperpigmentation Confusion Morning glory anomaly Premature skin wrinkling Asymmetric growth Osteoporosis Brachycephaly Mandibular prognathia Postnatal growth retardation Protruding ear Broad forehead Hip dislocation Hypoplasia of the maxilla Triangular face Hypotelorism Large fontanelles Congenital hip dislocation Growth abnormality Prominent superficial veins Visceral angiomatosis Narrow nasal ridge Abnormal glycosylation Dilatation Pes planus Prominent nasal bridge Arthrogryposis multiplex congenita Arachnodactyly High, narrow palate Premature birth Mitral valve prolapse Oligohydramnios Tall stature Increased body weight Lipodystrophy Abnormality of nervous system morphology Cerebral ischemia Reduced subcutaneous adipose tissue Neoplasm Absent speech Poor speech Inability to walk Delayed myelination Open mouth Plagiocephaly Delayed gross motor development Tented upper lip vermilion Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Abnormality of cardiovascular system morphology Arteriovenous malformation Arrhythmia High forehead Wide mouth Finger syndactyly Toe syndactyly Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Aortic aneurysm Aortic root aneurysm Renal malrotation Arnold-Chiari type I malformation Nephropathy Gliosis Renal hypoplasia Abnormality of the genital system Renal dysplasia Nephrolithiasis Horseshoe kidney Multicystic kidney dysplasia Abnormality of the genitourinary system Chronic kidney disease Hyperextensible skin Nephritis Visual field defect Severe vision loss Soft skin Proteinuria Abnormality of the vasculature Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma High-frequency hearing impairment Ureteropelvic junction obstruction Pyelonephritis Platybasia Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Stage 5 chronic kidney disease Hydronephrosis Scaphocephaly Increased susceptibility to fractures Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Low-set ears High palate Delayed eruption of teeth Hydrops fetalis Abnormality of dental enamel Abnormality of the voice Reduced visual acuity High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Renal insufficiency Microphthalmia Cephalocele



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