Hydrocephalus, and High forehead

Diseases related with Hydrocephalus and High forehead

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

Top matches:

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL 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

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Other less relevant matches:

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

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

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and High forehead

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Intellectual disability, severe Prominent forehead Low-set ears Abnormal facial shape Frontal bossing Absent speech Depressed nasal bridge Muscular hypotonia Epicanthus Strabismus Deeply set eye Long face Failure to thrive Arnold-Chiari malformation Mandibular prognathia Scoliosis Finger syndactyly High palate Delayed speech and language development Proptosis Downslanted palpebral fissures Short stature

Rare Symptoms - Less than 30% cases

Prominent nasal bridge Difficulty walking Cognitive impairment Gait ataxia Cerebral cortical atrophy Pneumonia Posteriorly rotated ears Upslanted palpebral fissure Micrognathia Large hands Atrial septal defect Polydactyly Pointed chin Postaxial polydactyly Dandy-Walker malformation Neurodegeneration Aggressive behavior Motor delay Cryptorchidism Generalized tonic-clonic seizures Megalencephaly Abnormal cardiac septum morphology Telecanthus Growth delay Intestinal malrotation Short nose Thick corpus callosum Communicating hydrocephalus Long foot Cerebellar hypoplasia Overgrowth Kyphosis Aplasia/Hypoplasia of the cerebellum Limitation of joint mobility Cloverleaf skull Wide mouth Toe syndactyly Polymicrogyria Ptosis Ataxia Shawl scrotum Anxiety Morning glory anomaly Long palpebral fissure Behavioral abnormality Dilatation Obesity Hyperactivity Autism Autistic behavior Thoracic scoliosis Infantile spasms Cortical dysplasia Large for gestational age Attention deficit hyperactivity disorder Knee flexion contracture Pachygyria Mitral regurgitation Cellular immunodeficiency Abnormality of chromosome stability Breathing dysregulation Multiple renal cysts Intellectual disability, profound Abnormal localization of kidney Capillary malformation Abnormality of the eye Irritability Coloboma Short philtrum Abnormal nasal morphology Abnormality of eye movement Cavum septum pellucidum Highly arched eyebrow Renal cyst Meningocele Chronic bronchitis Cerebellar vermis hypoplasia Open mouth Dilation of lateral ventricles Encephalocele Tented upper lip vermilion Molar tooth sign on MRI Occipital encephalocele Abnormally large globe Hirsutism Recurrent otitis media Protruding tongue Bronchiectasis Abnormality of neutrophils Blindness Flat face Macroglossia Hypoplasia of the corpus callosum Sepsis Decreased antibody level in blood Otitis media Ventricular septal defect Malabsorption Sinusitis Lymphopenia Skeletal muscle atrophy Recurrent pneumonia Visual impairment Malnutrition Combined immunodeficiency Impaired T cell function Bronchitis Narrow mouth Respiratory tract infection Polycystic ovaries Postaxial hand polydactyly Slurred speech Polyphagia Agammaglobulinemia Syringomyelia Arnold-Chiari type I malformation High anterior hairline Menstrual irregularities Shyness Advanced ossification of carpal bones Progressive macrocephaly Umbilical hernia Anemia Anteverted nares Diarrhea Decrease in T cell count Immunodeficiency Recurrent infections Hypospadias Muscular hypotonia of the trunk Recurrent respiratory infections Long nose Thin vermilion border Microphthalmia Hyperlordosis Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Myopia Cerebellar atrophy Macrotia Kyphoscoliosis Pes planus Joint laxity Arachnodactyly Arteriovenous malformation Abnormal cerebellum morphology Triangular face High myopia Lumbar hyperlordosis Tall stature Sparse eyebrow Disproportionate tall stature Long fingers Slender build Cerebral ischemia Nevus flammeus Expressive language delay Elbow ankylosis Midface retrusion Skeletal dysplasia Low-set, posteriorly rotated ears Craniosynostosis Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Craniofacial dysostosis Neoplasm Foot polydactyly Optic atrophy Abnormality of cardiovascular system morphology Arrhythmia Facial asymmetry Joint hyperflexibility Full cheeks Hand polydactyly Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Metopic synostosis Long neck Hypertension Coarse facial features Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Sensorineural hearing impairment Spasticity Flexion contracture Hyperreflexia Inguinal hernia Dementia Protruding ear Horseshoe kidney Thick vermilion border Prominent nose Cerebral calcification Choreoathetosis Narrow face Self-injurious behavior Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Nystagmus Biparietal narrowing Preauricular skin tag Severe expressive language delay Laryngomalacia Cleft palate Respiratory distress Visual loss Anal atresia Small hand Short foot Choanal atresia Broad thumb Increased intracranial pressure Atresia of the external auditory canal Vesicoureteral reflux Tracheomalacia Short hallux Broad hallux phalanx Aqueductal stenosis Hallux varus Deviation of the thumb Microcephaly Agenesis of corpus callosum Synophrys Smooth philtrum Vascular ring


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