Cleft palate, and Hydrocephalus

Diseases related with Cleft palate and Hydrocephalus

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


Top matches:

Low match HYDROLETHALUS SYNDROME 2; HLS2


Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Ventriculomegaly
  • Hydrocephalus
  • Agenesis of corpus callosum


SOURCES: OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 2; HLS2

Low match MECKEL SYNDROME, TYPE 3; MKS3


Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Low match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

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Other less relevant matches:

Low match MECKEL SYNDROME, TYPE 6; MKS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Low 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

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


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

Low match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Top 5 symptoms//phenotypes associated to Cleft palate and Hydrocephalus

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Anencephaly Common - Between 50% and 80% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Hydrocephalus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal cyst Encephalocele Micrognathia Microcephaly Oral cleft Cleft upper lip Cleft lip Holoprosencephaly Bile duct proliferation Microphthalmia Agenesis of corpus callosum Molar tooth sign on MRI

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Low-set ears Ventriculomegaly Unilateral cleft lip Ptosis Micromelia Dandy-Walker malformation Cryptorchidism Exotropia Retrognathia Abnormality of the pinna Hepatic fibrosis Micropenis Hypospadias Midface retrusion Abnormal facial shape Abnormality of cardiovascular system morphology Talipes equinovarus Hypertelorism Deeply set eye Frontal bossing Patent ductus arteriosus Epicanthus Hearing impairment Seizures Sandal gap Ulnar deviation of the hand or of fingers of the hand Microphallus Ulnar deviation of the hand Shield chest Barrel-shaped chest Depressed nasal tip Adrenal hypoplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Ambiguous genitalia Wide intermamillary distance Syndactyly Malar flattening Wide nasal bridge Heterotopia Intellectual disability, severe Narrow palpebral fissure Microcornea Small posterior fossa Proboscis Cyclopia Single median maxillary incisor Scaphocephaly Facial cleft Abnormality of digit Absent thumb Trigonocephaly Deep philtrum Hypotelorism Narrow forehead Astigmatism Sacral dimple Synophrys Hypermetropia Broad forehead Coloboma Macrotia Upslanted palpebral fissure Short nose Anteverted nares Macrocephaly Depressed nasal bridge High palate Global developmental delay Intellectual disability Brachydactyly Focal-onset seizure Abnormality of epidermal morphology Pulmonary hypoplasia Meningoencephalocele Agenesis of cerebellar vermis Meningocele Renal dysplasia Bowing of the long bones Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Intrauterine growth retardation Cystic liver disease Abnormal internal genitalia Hand polydactyly Neural tube defect Low-set, posteriorly rotated ears Abnormality of the diaphragm Calvarial skull defect Abnormal lung lobation Primary adrenal insufficiency Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Spina bifida Omphalocele Congenital diaphragmatic hernia Hernia Cystic renal dysplasia Multicystic kidney dysplasia Preaxial polydactyly Polyhydramnios Bifid uvula Abnormality of buccal mucosa Abnormal blistering of the skin Abnormal mast cell morphology Fragmented elastic fibers in the dermis Abnormality of the cheek Aplasia cutis congenita Skin vesicle Cupped ear Intracranial hemorrhage Dermal atrophy Hemangioma Cutis laxa Short chin Hemiparesis Nevus Premature birth Carious teeth Scarring Sparse hair Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Arrhinencephaly Abnormality of the respiratory system Submucous cleft hard palate Absent septum pellucidum Anophthalmia Laryngomalacia Exencephaly



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