Hydrocephalus, and Pulmonary hypoplasia

Diseases related with Hydrocephalus and Pulmonary hypoplasia

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

Top matches:

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Related symptoms:

  • Hydrocephalus
  • Syndactyly
  • Narrow mouth
  • Anal atresia
  • Pulmonary hypoplasia


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 2; FRASRS2

Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

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

Other less relevant matches:

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

High 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

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

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Pulmonary hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Polyhydramnios Macrocephaly Postaxial hand polydactyly Anencephaly Agenesis of corpus callosum Polydactyly Global developmental delay Generalized hypotonia Bilateral cleft lip Postaxial polydactyly Low-set ears Cryptorchidism Micropenis Ventricular septal defect Hernia Congenital diaphragmatic hernia Anophthalmia Intellectual disability Median cleft lip Occipital encephalocele Encephalocele Anal atresia Renal agenesis Abnormal cortical gyration

Rare Symptoms - Less than 30% cases

Abnormality of the pinna Respiratory insufficiency Renal hypoplasia Abnormality of cardiovascular system morphology Single naris Hip dislocation Micromelia Renal dysplasia Short ribs Bilateral cleft lip and palate Atrial septal defect Arrhinencephaly Hypospadias Intrauterine growth retardation Coloboma Severe hydrocephalus Single umbilical artery Dandy-Walker malformation Preaxial polydactyly Upper limb undergrowth Seizures Abnormal heart morphology Heterotopia Cleft upper lip Hemivertebrae Retrognathia Talipes equinovarus Holoprosencephaly Abnormal facial shape Microdontia Facial asymmetry Joint hypermobility Wide cranial sutures Median cleft lip and palate Large forehead Cholestasis Hepatic failure Abnormality of the fallopian tube Bulbous nose Iris coloboma Posteriorly rotated ears Intestinal malrotation Anterior pituitary hypoplasia Panhypopituitarism Abnormal cardiac septum morphology Agenesis of incisor Asymmetric ventricles Optic atrophy Diastolic heart murmur Hearing impairment Anterior pituitary agenesis Strabismus Short hard palate Sensorineural hearing impairment Motor delay Underdeveloped tragus Hypoplasia of the premaxilla Hypoplasia of the corpus callosum Wide anterior fontanel Downslanted palpebral fissures Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Semilobar holoprosencephaly Frontal bossing Single median maxillary incisor Ventriculomegaly Cerebellar hypoplasia Tracheoesophageal fistula Microretrognathia Anemia Accessory spleen Laryngeal hypoplasia Duplication of phalanx of hallux Aqueductal stenosis Bifid uterus Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Proximal tibial hypoplasia Inguinal hernia Abnormal vagina morphology Abnormality of the optic nerve Esophageal atresia Respiratory failure Abnormality of the vertebral column Abnormality of the kidney Microcornea Abnormal form of the vertebral bodies Abnormal vertebral morphology Absent thumb Anotia Bifid nose Lissencephaly Radial club hand Relative macrocephaly Cortical gyral simplification Communicating hydrocephalus Colpocephaly Macular hypoplasia Abnormality of the outer ear Hypoplasia of the radius Renal hypoplasia/aplasia Absence of the sacrum Hydronephrosis Complete atrioventricular canal defect Premature birth Spina bifida Omphalocele Preaxial hand polydactyly Absent septum pellucidum Abnormal lung lobation Broad neck Tracheal stenosis Femoral hernia Preaxial foot polydactyly Periventricular gray matter heterotopia Adrenal gland agenesis Skin tags Short nose Broad nasal tip Chorea Tetraparesis Short palpebral fissure Short chin Spastic tetraparesis Bicornuate uterus Hypoplastic left atrium Neoplasm Skeletal dysplasia Severe global developmental delay Hamartoma Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Abnormality of the skeletal system Short neck Edema Hyporeflexia Wide nose Sparse hair Polymicrogyria Renal cyst Narrow mouth Abdominal distention Underdeveloped nasal alae Ambiguous genitalia Cutaneous syndactyly Short thorax Bilateral renal agenesis Cryptophthalmos Hypoplasia of the bladder Hepatic fibrosis Muscular hypotonia of the trunk Hand polydactyly Bile duct proliferation Abnormal internal genitalia Cystic liver disease Spasticity Feeding difficulties Delayed speech and language development Wide nasal bridge Dystonia Brachycephaly Narrow chest Cerebellar vermis hypoplasia Partial agenesis of the corpus callosum Pulmonic stenosis Peripheral pulmonary vessel aplasia Short stature Microcephaly Respiratory distress Malar flattening Midface retrusion Macrotia Short philtrum Microtia Hypoplasia of the maxilla Hypoplasia of the fallopian tube Dental malocclusion Growth hormone deficiency Sloping forehead Hypotelorism Coarctation of aorta Preauricular skin tag Optic nerve hypoplasia Patent foramen ovale Heart murmur Neurodevelopmental delay Syndactyly Tetraphocomelia Hydrops fetalis Abnormality of the genital system Thoracic hypoplasia Molar tooth sign on MRI Thoracic dysplasia Retinal coloboma Aplastic clavicle Short upper lip Cataract Patent ductus arteriosus Choanal atresia Asplenia Tetraamelia Hypoplastic pelvis Amniotic constriction ring Vaginal atresia Long penis Phocomelia Gastroschisis Abnormality of the diaphragm Urethral atresia Amelia Absent external genitalia Microtia, third degree


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