Hydrocephalus, and Wide nasal bridge

Diseases related with Hydrocephalus and Wide nasal bridge

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

Top matches:

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Other less relevant matches:

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

High match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Wide nasal bridge

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Wide nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly Microphthalmia Cryptorchidism Abnormal facial shape Seizures Prominent nose Iris coloboma Short stature Generalized hypotonia Hearing impairment Micrognathia Hernia Depressed nasal tip Agenesis of corpus callosum Growth delay Epicanthus Wide mouth

Rare Symptoms - Less than 30% cases

Anteverted nares Highly arched eyebrow Short philtrum Thin upper lip vermilion Muscular hypotonia of the trunk Depressed nasal bridge Frontal bossing Severe global developmental delay Ventricular septal defect Hydronephrosis Short neck Intrauterine growth retardation Anal atresia Umbilical hernia Periorbital fullness Patent ductus arteriosus Renal hypoplasia Microcornea Mandibular prognathia Brachycephaly Glaucoma Cataract Strabismus Neoplasm Scoliosis Short chin Short palpebral fissure Coarse facial features Retrognathia Neonatal hypotonia Telecanthus Cleft lip Micropenis Abnormality of the pinna Low-set ears Abnormality of the skeletal system Oral cleft Spasticity High palate Midface retrusion Deeply set eye Hypospadias Polydactyly Hypertonia Holoprosencephaly Absent speech Abnormality of the male genitalia CNS demyelination Hypodontia Cranial asymmetry Everted lower lip vermilion Elevated long chain fatty acids Abnormality of the hairline Confusion Conductive hearing impairment Muscle weakness Blindness Abnormality of the dentition Kyphosis Syndactyly Visual loss Ventriculomegaly Inguinal hernia Malar flattening Babinski sign Scaphocephaly Delayed closure of the anterior fontanelle Triangular face Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Hepatomegaly Atrial septal defect Cerebral atrophy Elevated hepatic transaminase Hepatic failure Sepsis Abnormal cortical bone morphology Peripheral demyelination Decreased fetal movement Decreased body weight Wide anterior fontanel Hyperbilirubinemia Cholelithiasis Central hypotonia Growth hormone deficiency Double outlet right ventricle Renal tubular dysfunction Hypoplasia of the maxilla Reduced number of teeth Microdontia Thin vermilion border Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Hypoplastic sacrum Failure to thrive Sensorineural hearing impairment Hypoplasia of the corpus callosum Cardiomyopathy Long philtrum Obesity Hypertrophic cardiomyopathy Macroglossia Esophageal atresia Bifid uvula Delayed myelination Dandy-Walker malformation Ventricular hypertrophy Small nail Left ventricular hypertrophy Lissencephaly Failure to thrive in infancy Cutis marmorata Protruding tongue Severe failure to thrive Chromosome breakage Absent thumb Choanal atresia Anterior synechiae of the anterior chamber Hypoplasia of dental enamel Intestinal atresia Slurred speech Prominent supraorbital ridges Myotonia Abnormality of dental morphology Anal stenosis Aniridia Megalocornea Posterior embryotoxon Hypoplasia of the iris Abnormality of the abdominal wall Tracheoesophageal fistula Rieger anomaly Polycoria Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Anemia Microtia Leukemia Full cheeks Cafe-au-lait spot Bone marrow hypocellularity Hypoplasia of the radius Accessory spleen Short columella Peters anomaly Bilateral cleft lip and palate Broad forehead Smooth philtrum Ulnar deviation of the hand Dental malocclusion Hypotelorism Omphalocele Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Broad face Microphallus Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Protruding ear Macrotia Flat nasal alae Motor delay Apnea Intellectual disability, severe Talipes equinovarus Spastic paraplegia Paraplegia Talipes Bulbous nose Thick vermilion border Hyperreflexia Tetraplegia Focal-onset seizure Upslanted palpebral fissure Febrile seizures Spastic tetraplegia Cerebral palsy Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Macrocephaly Flexion contracture Short nose Ulnar deviation of the hand or of fingers of the hand Fusion of the left and right thalami Feeding difficulties Sex reversal Myopathy Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Ptosis Cognitive impairment Cerebellar hypoplasia Cerebral calcification Coloboma Prominent nasal bridge Malabsorption Astigmatism Intestinal malrotation Cerebellar vermis hypoplasia Optic nerve hypoplasia Preaxial polydactyly Sclerocornea Duodenal atresia Ectopia pupillae Hypogonadotrophic hypogonadism Arachnodactyly Delayed speech and language development Chorea Shield chest Barrel-shaped chest Dystonia Adrenal hypoplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Sparse hair Pulmonary hypoplasia Wide nose Broad nasal tip Congenital diaphragmatic hernia Carious teeth Tetraparesis Sandal gap Ambiguous genitalia Spastic tetraparesis Anophthalmia Bicornuate uterus Hypoplastic left atrium Wide intermamillary distance Postaxial polydactyly Cleft upper lip Micromelia Skull asymmetry


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