Hydrocephalus, and Sloping forehead

Diseases related with Hydrocephalus and Sloping forehead

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

Top matches:

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Other less relevant matches:

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

High match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

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

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Microphthalmia Cryptorchidism Oligohydramnios Cataract Intrauterine growth retardation Agenesis of corpus callosum Hyperreflexia Spasticity Cerebellar hypoplasia Hypoplasia of the corpus callosum Cortical gyral simplification Abnormality of cardiovascular system morphology Talipes Dandy-Walker malformation Postaxial hand polydactyly High palate Ptosis Anemia Hypertonia Visual impairment Abnormal facial shape Hypotelorism Wide mouth Cleft palate Epicanthus Pachygyria Strabismus Small for gestational age Macrotia Nystagmus Hypoplasia of the brainstem

Rare Symptoms - Less than 30% cases

Irritability Abnormality of the dentition Generalized hypotonia Ataxia Postaxial polydactyly Pulmonary hypoplasia Feeding difficulties Cognitive impairment Thrombocytopenia Cleft lip Delayed speech and language development Polydactyly Midface retrusion Abnormality of the eye Respiratory distress Adrenal hypoplasia Coarctation of aorta Clinodactyly of the 5th finger Hypospadias Anal atresia Low-set ears Lymphoma Dilatation Abnormality of skin pigmentation Patent ductus arteriosus Hydronephrosis Abnormal cardiac septum morphology Toe syndactyly Hydroureter Chorea Renal agenesis Abnormality of the genital system Spina bifida Prominent nasal bridge Postnatal growth retardation Partial agenesis of the corpus callosum Depressed nasal bridge Cerebellar atrophy Brain atrophy Flexion contracture Progressive microcephaly Multicystic kidney dysplasia Muscular hypotonia of the trunk Bowing of the long bones Encephalocele Scoliosis Limb hypertonia Motor delay Abnormality of the kidney Anophthalmia Neoplasm Low-set, posteriorly rotated ears Abnormality of the foot Severe global developmental delay Optic atrophy Hypopigmentation of the skin Talipes equinovarus Heterotopia Aplasia/Hypoplasia of the corpus callosum Cerebral atrophy Hearing impairment Lissencephaly Spastic tetraplegia Dystonia Renal insufficiency Proptosis Urethral atresia Aplasia/Hypoplasia of the iris Accessory spleen Abnormality of the uterus Hypothyroidism Asplenia Anencephaly Projectile vomiting Pes planus Growth delay Headache Weight loss Hypogonadism Severe short stature Upslanted palpebral fissure Atrial septal defect Abnormality of the skeletal system Failure to thrive Hepatomegaly Fever Diabetes mellitus Abnormal heart morphology Umbilical hernia Fatigue Frontal bossing Congestive heart failure Flat occiput Thyroid dysgenesis Severe muscular hypotonia Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Hypertrophic cardiomyopathy Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Adducted thumb Hyperkinesis Opacification of the corneal stroma Congenital hypothyroidism Aspiration Joint contracture of the hand Postnatal microcephaly Small nail Hypsarrhythmia Nephrotic syndrome Narrow forehead Prominent nose Premature birth Delayed myelination Slender finger Abnormality of immune system physiology Laryngospasm Hand clenching Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Periorbital edema Proportionate short stature Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Hiatus hernia Hypoplasia of the iris Carcinoma Reduced bone mineral density Abnormality of the liver Primary hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Abnormality of nervous system morphology Almond-shaped palpebral fissure Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Compensated hypothyroidism Abnormal carotid artery morphology Aplastic anemia Thick eyebrow Opisthotonus Poor suck Clonus Involuntary movements Epileptic encephalopathy Dyskinesia Babinski sign Encephalopathy Bimanual synkinesia Impulsivity Cerebellar vermis hypoplasia Synophrys Prolonged G2 phase of cell cycle Intellectual disability, moderate Aggressive behavior Dilation of lateral ventricles Polymicrogyria Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormality of the testis Abnormality of the upper limb Leukemia Aganglionic megacolon Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Choanal atresia Cranial nerve paralysis Short palpebral fissure Pancytopenia Tetralogy of Fallot Neutropenia Bruising susceptibility Vertigo Astigmatism Facial asymmetry Dolichocephaly Hip dislocation Finger syndactyly Azoospermia Renal hypoplasia/aplasia B-cell lymphoma Multiple cafe-au-lait spots Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Hypopigmented skin patches Absent thumb Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Limitation of joint mobility Submucous cleft hard palate Gliosis Anterior pituitary hypoplasia Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Semilobar holoprosencephaly Single median maxillary incisor Wide cranial sutures Median cleft lip and palate Panhypopituitarism Single naris Large forehead Abnormal cortical gyration Bilateral cleft lip and palate Skin tags Bilateral cleft lip Median cleft lip Neurodevelopmental delay Heart murmur Patent foramen ovale Underdeveloped tragus Short hard palate Holoprosencephaly Intestinal malrotation Radial deviation of finger Preaxial polydactyly Polycystic kidney dysplasia Arnold-Chiari malformation Spontaneous abortion Hepatic fibrosis Renal dysplasia Omphalocele Webbed neck Renal cyst Anterior pituitary agenesis Iris coloboma Cleft upper lip Clinodactyly Syndactyly Splenomegaly Short neck Diastolic heart murmur Asymmetric ventricles Agenesis of incisor Optic nerve hypoplasia Hemivertebrae Occipital encephalocele Self-mutilation Preaxial hand polydactyly Situs inversus totalis Depressed nasal ridge Ambiguous genitalia Full cheeks Microcornea Severe hydrocephalus Hydranencephaly Profound global developmental delay Generalized amyotrophy Postaxial foot polydactyly Multiple joint contractures Athetosis Poor head control Intellectual disability, progressive Knee flexion contracture Tetraparesis Generalized myoclonic seizures Intellectual disability, severe Skeletal muscle atrophy Male pseudohermaphroditism Sclerocornea Preauricular skin tag Ventricular septal defect Growth hormone deficiency Dental malocclusion Hypoplasia of the maxilla Oral cleft Pulmonic stenosis Microtia Short philtrum Micropenis Malar flattening Macrocephaly Furrowed tongue Cystic liver disease Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Abnormal chorioretinal morphology Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis External genital hypoplasia Natal tooth Tetraplegia Aplasia/Hypoplasia of the thumb Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Underdeveloped supraorbital ridges Delayed cranial suture closure Abnormality of thumb phalanx Metatarsus adductus Cutis marmorata Hypoplastic toenails Sacral dimple Sandal gap Spina bifida occulta Abnormality of the fingernails Low anterior hairline Narrow face Abnormality of female external genitalia Muscular hypotonia Chronic diarrhea Retinopathy Ascites Sleep disturbance Nephropathy Hematuria Inability to walk Arachnodactyly Poor speech Abnormality of eye movement Camptodactyly of finger Camptodactyly Edema Proteinuria EEG abnormality Gastroesophageal reflux Cerebral cortical atrophy Pes cavus Pneumonia Hernia Absent speech Vomiting Wide anterior fontanel Broad thumb Abnormality of the ureter Ambiguous genitalia, female Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Cerebellar dysplasia Occipital meningocele Portal fibrosis Ambiguous genitalia, male Cystic renal dysplasia Bile duct proliferation Abnormality of the larynx Breech presentation Single umbilical artery Meningocele Foot polydactyly Large placenta Craniorachischisis Sparse scalp hair Malabsorption Cutaneous photosensitivity Fine hair Eczema Asthma Delayed eruption of teeth Short foot Small hand Dry skin Joint hyperflexibility Attention deficit hyperactivity disorder Brachydactyly Blepharophimosis Craniosynostosis Protruding ear Telecanthus Delayed skeletal maturation Pectus excavatum Recurrent infections Respiratory insufficiency Myopia Extrapyramidal dyskinesia


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