Hydrocephalus, and Patent ductus arteriosus

Diseases related with Hydrocephalus and Patent ductus arteriosus

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

Top matches:

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Medium match TETRA-AMELIA

Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

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

Other less relevant matches:

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

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

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Medium match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Patent ductus arteriosus

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Depressed nasal bridge Brachydactyly Growth delay Short stature Redundant skin Muscular hypotonia Epicanthus Cleft palate Short sacroiliac notch Short femur Lethal short-limbed short stature Generalized hypotonia Increased nuchal translucency Cloverleaf skull Hypoplastic ilia Aplasia/Hypoplasia of the lungs Flat face Encephalocele Retrognathia Acanthosis nigricans Platyspondyly Abnormality of the metaphysis Narrow chest Microcephaly Wide nasal bridge Micromelia Macrocephaly Heterotopia Wide anterior fontanel Intrauterine growth retardation Occipital encephalocele Abnormal facial shape Decreased fetal movement Respiratory insufficiency Kyphosis Proptosis Polyhydramnios Skeletal dysplasia Abnormality of the kidney

Rare Symptoms - Less than 30% cases

Joint stiffness Respiratory distress Rocker bottom foot Polymicrogyria Motor delay Long philtrum Intellectual disability, profound Small face Anteverted nares Ventricular septal defect Cryptorchidism Sensorineural hearing impairment Failure to thrive Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Severe short-limb dwarfism Flared metaphysis Split hand Abnormality of neuronal migration Metaphyseal irregularity Disproportionate short-limb short stature Short ribs Joint hyperflexibility Severe short stature Periorbital fullness Excessive wrinkled skin Abnormality of the skeletal system Bowing of the long bones Femoral bowing Wide mouth Micrognathia Decreased body weight Anencephaly Cataract Low-set ears Agenesis of corpus callosum Cerebral atrophy Neonatal hypotonia Triangular face Sepsis Hypospadias Abnormality of the pinna Achalasia Patent foramen ovale Dolichocephaly Facial asymmetry Smooth philtrum Small hand Full cheeks Mitral valve prolapse Interphalangeal joint contracture of finger Short palpebral fissure Plagiocephaly Abnormality of vision Tricuspid regurgitation Abnormality of the eye Mild short stature Thoracic hypoplasia External genital hypoplasia Adrenal insufficiency Anteriorly placed anus Ptosis Hyponatremia Shallow orbits Myelodysplasia Ventricular extrasystoles Camptodactyly of finger Low-set, posteriorly rotated ears Overlapping fingers Hypertelorism Microphallus Aspiration pneumonia Adrenal hypoplasia Shawl scrotum Esophageal stricture Petechiae Radial club hand Hyperkalemia Hypoplastic spleen Intellectual disability High palate Joint laxity Downslanted palpebral fissures Intellectual disability, mild Short nose Malar flattening Abnormality of cardiovascular system morphology Abnormal heart morphology Abnormality of nervous system morphology Clinodactyly of the 5th finger Upslanted palpebral fissure Pes planus Thin upper lip vermilion Secundum atrial septal defect Scaphocephaly Ataxia Aplasia cutis congenita of scalp Dextrocardia Cortical dysplasia Chorioretinal atrophy Absent septum pellucidum Aplasia cutis congenita Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Calvarial skull defect Large forehead Anomalous pulmonary venous return Total anomalous pulmonary venous return Pyloric stenosis Macular hypoplasia Lens luxation Band keratopathy Lymphangioma Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Exudative retinal detachment Peripapillary atrophy Occipital meningocele Bifid ureter Ectopia lentis Corneal dystrophy Nystagmus Nyctalopia Strabismus Visual impairment Abnormal intestine morphology Myopia Blindness Cerebellar atrophy Midface retrusion Visual loss Alopecia Glaucoma Mental deterioration Leukemia Macular degeneration Congenital cataract Retinal degeneration Bulbous nose Retinal detachment Vesicoureteral reflux Progressive visual loss High myopia Thin skin Pachygyria Abnormality of the hair Narrow face Horizontal nystagmus Intracranial hemorrhage Chronic diarrhea Leukopenia Abnormality of the genital system Long penis Vaginal atresia Amniotic constriction ring Hypoplastic pelvis Asplenia Single umbilical artery Abnormality of the sacroiliac joint Bilateral cleft lip Cognitive impairment Renal dysplasia Limitation of joint mobility Gastroschisis Choanal atresia Holoprosencephaly Renal agenesis Pulmonary hypoplasia Oral cleft Cleft upper lip Short thorax Anal atresia Cleft lip Microphthalmia Molar tooth sign on MRI Phocomelia Abnormality of the diaphragm Narrow palpebral fissure Peripheral demyelination Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Central hypotonia CNS demyelination Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Cholelithiasis Hyperbilirubinemia Prominent nose Urethral atresia Hepatic failure Elevated hepatic transaminase Hepatomegaly Peripheral pulmonary vessel aplasia Adrenal gland agenesis Hypoplasia of the fallopian tube Tetraphocomelia Single naris Tetraamelia Absent external genitalia Amelia Sacral dimple Exotropia Recurrent bacterial infections Talipes equinovarus Polydactyly Limb undergrowth Epidermal acanthosis Short long bone Radioulnar synostosis Megalencephaly Lethal skeletal dysplasia Craniofacial dysostosis Severe platyspondyly Scoliosis Anemia Diarrhea Skull asymmetry Thrombocytopenia Gastroesophageal reflux Hypoglycemia Paraplegia Decreased testicular size Recurrent urinary tract infections Double outlet right ventricle Hyperpigmentation of the skin Lymphopenia Hypergonadotropic hypogonadism Meningitis Micropenis Severe failure to thrive Short neck Severe global developmental delay Hypoplasia of the corpus callosum Cardiomyopathy Hypertonia Renal cyst Absent speech Hernia Obesity Coarse facial features Umbilical hernia Hypertrophic cardiomyopathy Postaxial polydactyly Thin vermilion border Protruding tongue Macroglossia Bifid uvula Delayed myelination Dandy-Walker malformation Ventricular hypertrophy Small nail Left ventricular hypertrophy Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Cephalocele


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