Cleft palate, and Ventriculomegaly

Diseases related with Cleft palate and Ventriculomegaly

In the following list you will find some of the most common rare diseases related to Cleft palate and Ventriculomegaly 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 MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 MENTAL RETARDATION, X-LINKED 102; MRX102


An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

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 CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Dandy-Walker malformation Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Encephalocele Generalized hypotonia Microphthalmia Global developmental delay Abnormal facial shape Cleft upper lip Scoliosis Cataract Congenital cataract Hypoplasia of the corpus callosum Cleft lip Micrognathia Intrauterine growth retardation Bile duct proliferation Postaxial hand polydactyly Anencephaly Occipital encephalocele Renal cyst Growth delay

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Agenesis of corpus callosum Dilatation Wide nasal bridge Brain atrophy Molar tooth sign on MRI Flexion contracture Bowing of the long bones Tented upper lip vermilion Intellectual disability, severe Hypospadias Low-set ears Meningocele Visual impairment Spasticity Aplasia/Hypoplasia of the corpus callosum Hearing impairment Meningoencephalocele Atrial septal defect Sparse eyebrow Myopia Hypertelorism Muscle weakness Ulnar deviation of the hand or of fingers of the hand Nevus flammeus Ulnar deviation of the hand Epicanthus Strabismus Ptosis Downslanted palpebral fissures Microcornea Microphallus Everted lower lip vermilion Short philtrum Abnormal cardiac septum morphology Sparse hair Hydronephrosis Kyphosis Nevus Lissencephaly Respiratory insufficiency Congenital muscular dystrophy Persistent pupillary membrane Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Peters anomaly Buphthalmos Hypoplasia of the pons Retinal atrophy Abnormality of the periventricular white matter Spinal rigidity Congenital glaucoma Skeletal muscle hypertrophy Hypoplasia of the brainstem Congenital contracture Elevated serum creatine phosphokinase Barrel-shaped chest Severe muscular hypotonia Heterotopia Pachygyria Cerebellar vermis hypoplasia Intellectual disability, profound Macroglossia Polymicrogyria Hypermetropia Abnormality of the cerebral white matter Muscular dystrophy Neonatal hypotonia Glaucoma Shield chest Decreased fetal movement Depressed nasal tip Dyskinesia Absent speech Cerebral atrophy Short nose Intellectual disability, mild Motor delay Sensorineural hearing impairment Cortical dysplasia Precocious puberty Decreased body weight Broad-based gait Autistic behavior Broad nasal tip Aggressive behavior Autism Hyperactivity Behavioral abnormality Agenesis of cerebellar vermis Renal dysplasia Ventricular septal defect Cystic renal dysplasia Multicystic kidney dysplasia Hepatic fibrosis Preaxial polydactyly Poor speech Aganglionic megacolon Adrenal hypoplasia Syndactyly Scrotal hypoplasia Holoprosencephaly Sandal gap Ambiguous genitalia Wide intermamillary distance Oral cleft Micromelia Abnormality of the pinna Deeply set eye Micropenis Midface retrusion Malar flattening Absence seizures Abnormality of the skeletal system Brachydactyly Cryptorchidism Rocker bottom foot Cutaneous photosensitivity Arthrogryposis multiplex congenita Edema Talipes equinovarus Mild microcephaly Hyperphosphatemia Elevated alkaline phosphatase Moderate myopia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Prostate cancer, related diseases and genetic alterations Rod-cone dystrophy and Nyctalopia, related diseases and genetic alterations Hepatomegaly and Polyhydramnios, related diseases and genetic alterations Hyperreflexia and Short neck, related diseases and genetic alterations Cleft palate and Finger syndactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more