Hydrocephalus, and Premature birth

Diseases related with Hydrocephalus and Premature birth

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

Top matches:

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Medium match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Medium match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Top 5 symptoms//phenotypes associated to Hydrocephalus and Premature birth

Symptoms // Phenotype % cases
Polyhydramnios Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Premature birth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dilatation Ventricular septal defect Macrocephaly Low-set ears Failure to thrive Generalized hypotonia Intellectual disability Global developmental delay Talipes equinovarus Anencephaly Micrognathia Polydactyly Cerebellar hypoplasia Absent septum pellucidum Scoliosis Dandy-Walker malformation Arthrogryposis multiplex congenita Atrial septal defect Cryptorchidism Pulmonary hypoplasia Abnormality of the kidney Agenesis of corpus callosum Abnormality of cardiovascular system morphology Microphthalmia Ventriculomegaly Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Hydranencephaly Severe hydrocephalus Decreased fetal movement Fetal akinesia sequence Cystic hygroma Akinesia Pterygium Skeletal muscle atrophy Tracheal stenosis Flexion contracture Preaxial hand polydactyly Encephalocele Hypertension Osteopenia Hydronephrosis Hypospadias Muscular hypotonia Ptosis High palate Abnormality of the skeletal system Edema Congestive heart failure Omphalocele Preaxial polydactyly Respiratory tract infection Ascites High, narrow palate Hypoplastic left heart Prominent nasal bridge Proptosis Esophageal atresia Downslanted palpebral fissures Microcephaly Small nail Tetralogy of Fallot Syndactyly Hernia Anteverted nares Hypertelorism Finger syndactyly Abnormal heart morphology Patent ductus arteriosus Laryngomalacia Blepharophimosis Postaxial hand polydactyly Low-set, posteriorly rotated ears Retrognathia Heterotopia Nephrotic syndrome Postaxial polydactyly Coarse facial features Arrhinencephaly Tall stature Coarctation of aorta Esophageal varix Abnormality of the lower limb Cirrhosis Polymicrogyria Hypoplastic fingernail Pulmonary artery atresia Hypertonia Hypoplasia of the corpus callosum Abnormal pulmonary valve morphology Brachydactyly Short distal phalanx of finger Cognitive impairment Abnormality of the upper limb Aortic valve stenosis Arteriovenous malformation Cataract Gastrointestinal hemorrhage Pulmonary arterial hypertension Porencephalic cyst Strabismus Esotropia Periventricular leukomalacia Aplasia cutis congenita of scalp Chylothorax Aplastic/hypoplastic toenail Absent hand Absent fingernail Intestinal hypoplasia Congenital hepatic fibrosis Calvarial skull defect Toe syndactyly Portal hypertension Talipes Meningitis Leukopenia Pulmonic stenosis Cleft upper lip Telangiectasia Pachygyria Bicuspid aortic valve Leukemia Abnormality of the metacarpal bones Split hand Sparse hair Cutis marmorata Double outlet right ventricle Supernumerary nipple EEG abnormality Alopecia Cortical dysplasia Aplasia/Hypoplasia of the skin Nail dysplasia Cutaneous finger syndactyly Aplasia cutis congenita Oligodactyly Central hypotonia Hemiparesis Pulmonary artery stenosis Thrombocytopenia Venous malformation Large fontanelles Absent toe Absent radius Atelectasis Rectovaginal fistula Duodenal atresia Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Aplasia/Hypoplasia of the radius Wheezing Abnormality of female internal genitalia Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Right bundle branch block Bundle branch block Abnormality of the pancreas Ureteropelvic junction obstruction Dextrocardia Anorectal anomaly Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Abnormality of the urethra Cavernous hemangioma Abnormality of the intervertebral disk Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Ectopic kidney Tracheoesophageal fistula Cutis marmorata telangiectatica congenita Postnatal growth retardation Hypoplasia of penis Renal agenesis Intestinal malrotation Vesicoureteral reflux Tachycardia Anal atresia Facial asymmetry Pneumonia Congenital diaphragmatic hernia Dysphagia Anemia Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Ambiguous genitalia Abnormality of the ribs Unilateral renal agenesis Hemivertebrae Bifid scrotum Triphalangeal thumb Radioulnar synostosis Hypoplasia of the radius Tachypnea Abnormality of the outer ear Multicystic kidney dysplasia Spina bifida Choanal atresia Situs inversus totalis Preauricular skin tag Abnormal vertebral morphology Short thumb Small placenta Renal dysplasia Recurrent urinary tract infections Abnormality of the genital system Absent palmar crease Conjugated hyperbilirubinemia Short umbilical cord Mitral valve prolapse Lipodystrophy Relative macrocephaly Cutis laxa Increased body weight High myopia Oligohydramnios Bruising susceptibility Aortic aneurysm Arachnodactyly Craniosynostosis Pes planus Gastroesophageal reflux Prominent forehead Pectus excavatum Myopia Ectopia lentis Reduced subcutaneous adipose tissue Multiple pterygia Narrow palm Abnormal lung lobation Holoprosencephaly Oral cleft Abnormality of the pinna Cleft lip Prominent scalp veins Dural ectasia Aortic root aneurysm Pes valgus Hyperextensibility of the finger joints Entropion Progeroid facial appearance Narrow nose Severe intrauterine growth retardation Scaphocephaly Abnormal facial shape Limb joint contracture Upper limb undergrowth Submucous cleft hard palate Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Abnormality of the respiratory system Anophthalmia Mandibular prognathia Bifid uvula Micromelia Deeply set eye Periventricular gray matter heterotopia Renal corticomedullary cysts Renal cyst Renal insufficiency Short stature Umbilical hernia Hypoplasia of the brainstem Premature rupture of membranes Lissencephaly Microretrognathia Hypsarrhythmia Cerebral calcification Abnormality of metabolism/homeostasis Visual impairment Everted upper lip vermilion Thick eyebrow Maternal diabetes Short columella Long palpebral fissure Deep philtrum Narrow palpebral fissure Overgrowth Round face Median cleft lip Broad neck Elbow ankylosis Narrow mouth Abnormality of pelvic girdle bone morphology Short palpebral fissure Small for gestational age Camptodactyly of finger Camptodactyly Telecanthus Posteriorly rotated ears Rocker bottom foot Long philtrum Kyphosis Respiratory insufficiency Short neck Peripheral neuropathy Depressed nasal bridge Fetal ascites Congenital contracture Multiple joint contractures Vacuolated lymphocytes Excessive daytime somnolence Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Cavum septum pellucidum Ulnar deviation of the hand Overlapping fingers Depressed nasal tip Thoracic hypoplasia Adrenal hypoplasia Abnormality of abdomen morphology Fatigable weakness Thin ribs Slender long bone Hypokinesia Generalized amyotrophy J-shaped sella turcica Visceromegaly Bilateral cleft lip Duplication of phalanx of hallux Ataxia Proximal tibial hypoplasia Cleft in skull base Adrenal gland dysgenesis Agenesis of the diaphragm Bifid uterus Laryngeal hypoplasia Epicanthus Accessory spleen Abnormal vagina morphology Bifid nose Complete atrioventricular canal defect Preaxial foot polydactyly Abnormal cortical gyration Bilateral cleft lip and palate Nystagmus Hepatomegaly Dysostosis multiplex Cardiomegaly Fair hair Metaphyseal irregularity Abnormality of the thorax Aspiration Hydrops fetalis Gingival overgrowth Hypopigmentation of the skin Cerebellar atrophy Abnormality of the foot Severe global developmental delay Corneal opacity Hepatosplenomegaly Inguinal hernia Cerebral atrophy Splenomegaly Patent urachus


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