Hydrocephalus, and Prominent nose

Diseases related with Hydrocephalus and Prominent nose

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


Top matches:

High match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52


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

High match HOLOPROSENCEPHALY 7; HPE7


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

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

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Other less relevant matches:

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES 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

High match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

High match STROMME SYNDROME; STROMS


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

High match PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A


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

High match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

High match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

High match GALLOWAY-MOWAT 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Prominent nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Generalized hypotonia Prominent forehead Hypotelorism Micrognathia Frontal bossing Epicanthus Wide mouth Ventriculomegaly Hyperreflexia High palate Wide nasal bridge Spasticity Cognitive impairment Hypertonia Motor delay Macrocephaly Microphthalmia Macrotia Agenesis of corpus callosum Prominent nasal bridge Flexion contracture Cerebellar hypoplasia Muscular hypotonia Strabismus Scoliosis Dandy-Walker malformation Optic atrophy Midface retrusion Spastic tetraplegia Anemia Talipes equinovarus Muscular hypotonia of the trunk Coarse facial features Talipes Tetraplegia Absent speech

Rare Symptoms - Less than 30% cases


EEG abnormality Limitation of joint mobility Gliosis Polydactyly Dilatation Narrow face Deeply set eye Cerebral cortical atrophy High forehead Nystagmus Abnormality of the kidney Severe global developmental delay Heterotopia Cryptorchidism Abnormal vertebral morphology Cerebral calcification Underdeveloped nasal alae Abnormality of the metacarpal bones Small nail Brachycephaly Malabsorption Hepatomegaly Hydronephrosis Cerebral atrophy Low-set ears Abnormality of the skeletal system Ptosis Cataract Proptosis Abnormality of the face Cleft palate Craniosynostosis Short columella Absent radius Aplasia/Hypoplasia of the thumb Hallux valgus Preaxial polydactyly Growth delay Intrauterine growth retardation Abnormality of the dentition Thick vermilion border Short nose Brachydactyly Short philtrum Protruding ear Intellectual disability, severe Hearing impairment Neonatal hypotonia Highly arched eyebrow Iris coloboma Apnea Fusion of the left and right thalami Flat occiput Holoprosencephaly Broad forehead Poikiloderma Rectovaginal fistula Rib fusion Osteosarcoma Choanal stenosis Sagittal craniosynostosis Chromosome breakage Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Oligodactyly Bilateral conductive hearing impairment Flat nasal alae Abnormal localization of kidney Flat forehead Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Urogenital fistula Oxycephaly Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Anterior plagiocephaly Patellar hypoplasia Anteriorly placed anus Short humerus Myopia Conductive hearing impairment Narrow mouth Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Behavioral abnormality Ventricular septal defect Downslanted palpebral fissures Babinski sign Abnormal cardiac septum morphology Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Low-set, posteriorly rotated ears Skin rash Aphalangy of the hands Short thumb Narrow nasal bridge Absent thumb Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Failure to thrive in infancy Hypoplasia of the radius Spina bifida occulta Large fontanelles Facial asymmetry Renal dysplasia Bowing of the long bones Pancytopenia Lymphoma Vesicoureteral reflux Bifid uvula Polymicrogyria Anal atresia Anomalous splenoportal venous system Delayed speech and language development Unilateral radial aplasia Hypoplasia of the brainstem Hypoplasia of the iris Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Glomerulosclerosis Adrenal hypoplasia Hypoalbuminemia Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma Aspiration Hiatus hernia Aspiration pneumonia Progressive microcephaly Diffuse mesangial sclerosis Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diaphragmatic eventration Mild microcephaly Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Joint contracture of the hand Postnatal microcephaly Ataxia Renal insufficiency Abnormality of the eye Camptodactyly Proteinuria Gastroesophageal reflux Hypothyroidism Pes cavus Pneumonia Hernia Dystonia Retinopathy Vomiting Cerebellar atrophy Edema Hypoplasia of the corpus callosum Visual impairment Abnormal pattern of respiration Feeding difficulties Abnormal facial shape Irritability Camptodactyly of finger Pachygyria Chorea Hypsarrhythmia Nephrotic syndrome Oligohydramnios Narrow forehead Sloping forehead Premature birth Delayed myelination Brain atrophy Ascites Small for gestational age Hypopigmentation of the skin Sleep disturbance Nephropathy Hematuria Inability to walk Arachnodactyly Poor speech Abnormality of eye movement Abnormality of the foot Persistence of primary teeth Abnormality of the vertebral column Low back pain Triphalangeal thumb Preaxial foot polydactyly Abnormality of the wrist Cleft lip Broad foot Tarsal synostosis Smooth philtrum Short middle phalanx of finger Preaxial hand polydactyly Hand polydactyly Patellar aplasia Oral cleft Aplasia/Hypoplasia of the corpus callosum Dental malocclusion Omphalocele Depressed nasal ridge Partial agenesis of the corpus callosum Short foot Downturned corners of mouth Abnormality of the nose Absent tibia Thin vermilion border Loss of ability to walk Cerebellar vermis hypoplasia Intestinal malrotation Microcornea Astigmatism Spastic diplegia Facial hypotonia Coloboma Abnormality of the pinna Myopathy Premature atrial contractions Simple febrile seizures Anteverted nares Upslanted palpebral fissure Thin upper lip vermilion Mirror image polydactyly Fibular duplication Limb duplication Rudimentary to absent tibiae Postaxial polydactyly Toe syndactyly Short palpebral fissure Long eyelashes Median cleft lip and palate Inguinal hernia Single median maxillary incisor Midline defect of the nose Sensorineural hearing impairment Parietal bossing Semilobar holoprosencephaly Thick upper lip vermilion Open mouth Bilateral microphthalmos Alobar holoprosencephaly Epileptic encephalopathy Hypoplasia of the premaxilla Everted lower lip vermilion Absent nasal septal cartilage Anxiety Hyperactivity Myoclonus Dementia Panhypopituitarism Finger syndactyly Pointed chin Median cleft lip Bilateral cleft lip Syndactyly Abnormality of the basal ganglia High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Depressed nasal tip Gait ataxia Choreoathetosis Neurodegeneration Long face Aggressive behavior Bilateral cleft lip and palate Difficulty walking Broad face Mandibular prognathia Renal hypoplasia Optic nerve hypoplasia Small face Recurrent fractures Bone pain Abnormality of epiphysis morphology Blue sclerae Abnormality of the skin Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Postural instability Delayed eruption of teeth Increased bone mineral density Short distal phalanx of finger Carious teeth Narrow chest Hyperlordosis Hepatosplenomegaly Skeletal dysplasia Spastic paraplegia Paraplegia Short toe Abnormality of the nail Malar flattening Osteomyelitis Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Encephalopathy Agenesis of permanent teeth Prominent occiput Abnormality of dental morphology Wormian bones Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Abnormality of the fingernails Narrow palate Osteoporosis Kyphosis Sclerocornea Jejunal atresia Hepatic failure Elevated hepatic transaminase Patent ductus arteriosus Focal-onset seizure Atrial septal defect Febrile seizures Cerebral palsy Corneal astigmatism Hypoplastic iris stroma Sepsis Bilateral renal hypoplasia Retinal vascular tortuosity Accessory spleen Intestinal atresia Peters anomaly Sex reversal Ectopia pupillae Duodenal atresia Triangular face Peripheral demyelination Splenomegaly Delayed closure of the anterior fontanelle Bulbous nose Pain Abnormality of the male genitalia Abnormality of the hairline Elevated long chain fatty acids Cranial asymmetry CNS demyelination Periorbital fullness Abnormal cortical bone morphology Decreased fetal movement Renal tubular dysfunction Double outlet right ventricle Scaphocephaly Central hypotonia Cholelithiasis Hyperbilirubinemia Wide anterior fontanel Decreased body weight Projectile vomiting



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