Hydrocephalus, and Hypertrichosis

Diseases related with Hydrocephalus and Hypertrichosis

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

Top matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Other less relevant matches:

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

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

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

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

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypertrichosis

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Synophrys Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

Short stature Short neck Seizures Scoliosis Thick eyebrow Macrocephaly Telecanthus Umbilical hernia Generalized hypotonia Kyphosis Inguinal hernia Macroglossia Skeletal dysplasia Osteopenia Epicanthus Ventriculomegaly Hearing impairment Wide nose Microcephaly Anteverted nares Abnormality of the skeletal system High palate Hernia Recurrent infections Intellectual disability, severe Midface retrusion Upslanted palpebral fissure Ptosis Downslanted palpebral fissures Delayed speech and language development Short nose Apnea Intestinal malrotation Micrognathia Low-set ears Hirsutism Splenomegaly Cognitive impairment Hepatomegaly

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Delayed cranial suture closure Mandibular prognathia Thick lower lip vermilion Low anterior hairline Headache Broad ribs Pneumonia Papilledema Sleep apnea Pectus carinatum Delayed eruption of teeth Spondyloepiphyseal dysplasia Cryptorchidism Talipes equinovarus Dermatan sulfate excretion in urine Dolichocephaly Failure to thrive Spastic tetraplegia Hepatosplenomegaly Severe short stature Cardiomyopathy Flexion contracture Absent frontal sinuses Platybasia Biconcave vertebral bodies Metatarsus adductus Osteolysis Wormian bones Bowing of the long bones Neurodegeneration Tetraplegia Widely spaced teeth Abnormality of the dentition Platyspondyly Mild short stature Recurrent fractures Genu valgum Abnormal heart valve morphology Kyphoscoliosis Dysostosis multiplex Narrow mouth Heparan sulfate excretion in urine Patent ductus arteriosus Hypospadias Corneal opacity Long philtrum Full cheeks Osteoporosis Strabismus Growth delay Abnormal cardiac septum morphology Brachycephaly Muscular hypotonia High forehead Thin vermilion border Scaphocephaly Cleft palate Joint laxity Tracheobronchomalacia Cervical cord compression Urinary glycosaminoglycan excretion Depressed nasal bridge Spasticity Motor delay Microphthalmia Edema Hypertonia Retinoschisis Dyspnea Dilatation Arrhythmia Intestinal pseudo-obstruction Polyhydramnios Abnormality of the nervous system Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Intellectual disability, moderate Hyperlordosis Postnatal growth retardation Respiratory tract infection Poor speech Facial asymmetry Vertigo Ascites Retinal fold Abnormality of the pinna Myelopathy Narrow forehead Pigmentary retinopathy Asthma Oral cleft Postural instability Microcornea Abnormality of the cerebral white matter Hypotelorism Intellectual disability, profound Attention deficit hyperactivity disorder Retinopathy Exotropia Rod-cone dystrophy Holoprosencephaly Pes cavus Astigmatism Tetraparesis Webbed neck Aortic regurgitation Obstructive sleep apnea Coloboma Broad forehead Incoordination Corneal dystrophy Hypermetropia Spastic tetraparesis Progressive neurologic deterioration Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Hoarse voice Abnormality of retinal pigmentation Split hand Recurrent otitis media Macrotia Broad-based gait Hip dysplasia Abnormality of the fingernails Recurrent respiratory infections Arthralgia Delayed puberty Joint hyperflexibility Dry skin Short distal phalanx of finger Iris coloboma Downturned corners of mouth Thickened skin Bone pain Short toe Aortic valve stenosis Skin ulcer Generalized hirsutism Arnold-Chiari malformation Ventricular septal defect Hypoplasia of the zygomatic bone Hypoplastic 5th lumbar vertebrae Rough bone trabeculation Abnormality of the mandible Mitral stenosis Decreased skull ossification Periodontitis Abnormality of the skull Coarse hair Patellar dislocation Multiple renal cysts Syringomyelia Prominent occiput Open bite Abnormality of the voice Abnormality of cardiovascular system morphology Myopia Lumbar hyperlordosis Recurrent ear infections Congestive heart failure Gingival overgrowth Hydrops fetalis Cardiac arrest Opacification of the corneal stroma Recurrent upper respiratory tract infections Pterygium Pleural effusion Hyperactive deep tendon reflexes Hypoplasia of the odontoid process Thoracic kyphosis Spinal cord compression Thoracolumbar scoliosis Nonimmune hydrops fetalis Pulmonary insufficiency Wide nasal bridge Anterior beaking of lumbar vertebrae Brachydactyly Peripheral neuropathy Cataract Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Pseudoarthrosis Thoracolumbar kyphosis Snoring Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Deep philtrum Abnormality of digit Diarrhea Choanal stenosis Horseshoe kidney Respiratory failure Micropenis Hydronephrosis Carcinoma Preauricular skin tag Nausea Vesicoureteral reflux Smooth philtrum Generalized tonic-clonic seizures Increased intracranial pressure Loss of consciousness Upper limb undergrowth Broad neck Osteosarcoma Biparietal narrowing Papilloma Choroid plexus papilloma Choroid plexus carcinoma Gait disturbance Agenesis of corpus callosum Cerebral cortical atrophy Frontal bossing Gastroesophageal reflux Hypoglycemia Anxiety Syncope Overgrowth Clumsiness Conjunctivitis Depressivity Prominent metopic ridge Keratitis Flat acetabular roof Bulbous nose Flat face Prominent forehead Thick vermilion border Abnormality of the skin Low posterior hairline Cerebral atrophy Hypoplasia of the corpus callosum Infantile muscular hypotonia Metaphyseal irregularity Nystagmus Flared metaphysis Short femoral neck Irregular vertebral endplates Spondyloepimetaphyseal dysplasia Vomiting Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Small basal ganglia Neoplasm Ataxia Exaggerated cupid's bow Feeding difficulties Optic disc hypoplasia Atrial septal defect Cerebral palsy Keratoconjunctivitis sicca Trigonocephaly Short nail Proboscis Cyclopia Pathologic fracture Vertebral fusion Dislocated radial head Proportionate short stature Premature loss of teeth Radial bowing Vocal cord paralysis Vertebral compression fractures Osteolytic defects of the phalanges of the hand Large earlobe Generalized osteoporosis Single median maxillary incisor Facial cleft Small posterior fossa Large sella turcica Basilar impression Cervical instability Basilar invagination Foot acroosteolysis Bilateral vocal cord paralysis Serpentine fibula Crowded carpal bones Tall lumbar vertebral bodies Elongated sella turcica Cheyne-Stokes respiration Confusion Visual impairment Absent thumb Narrow palpebral fissure Increased bone mineral density Raynaud phenomenon Developmental regression Hemihypertrophy Large forehead Stomatitis Recurrent aphthous stomatitis Cavum septum pellucidum Hypoinsulinemia Duplication of thumb phalanx Pain Mild microcephaly Cerebellar vermis hypoplasia Renal insufficiency Dandy-Walker malformation Highly arched eyebrow Everted lower lip vermilion Aggressive behavior Abnormal vertebral morphology Deeply set eye Autism Hyperactivity Conductive hearing impairment Protruding ear Paralysis Joint hypermobility Renal cyst Absent speech Behavioral abnormality Dental malocclusion Exencephaly Abnormality of the face Long eyelashes Partial absence of toe


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