Cleft palate, and Dandy-Walker malformation

Diseases related with Cleft palate and Dandy-Walker malformation

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


Top matches:

Medium 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

Medium 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

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Medium 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

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

Medium match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


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

Medium match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Top 5 symptoms//phenotypes associated to Cleft palate and Dandy-Walker malformation

Symptoms // Phenotype % cases
Encephalocele Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly 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 Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Postaxial hand polydactyly Microcephaly Microphthalmia Cryptorchidism Global developmental delay Anencephaly Bowing of the long bones Micrognathia Renal cyst Occipital encephalocele Growth delay Hearing impairment Ventricular septal defect Seizures Bile duct proliferation

Rare Symptoms - Less than 30% cases


Arthrogryposis multiplex congenita Cleft lip Severe hydrocephalus Pulmonary hypoplasia Pterygium Lissencephaly Talipes Low-set ears Flexion contracture Premature birth Polyhydramnios Coarse facial features Macrocephaly Ambiguous genitalia Microretrognathia Accessory spleen Short neck Cerebellar hypoplasia Agenesis of corpus callosum Hypertelorism Absent speech Patent ductus arteriosus Multicystic kidney dysplasia Meningocele Meningoencephalocele Hypoplasia of the corpus callosum Atrial septal defect Renal dysplasia Molar tooth sign on MRI Preaxial polydactyly Intellectual disability Generalized hypotonia Sensorineural hearing impairment Wide nasal bridge Intellectual disability, mild Bifid uvula Preaxial hand polydactyly Talipes equinovarus Omphalocele Congenital hepatic fibrosis Furrowed tongue Ureteral duplication Aplasia/Hypoplasia of the tongue Pancreatic cysts Aplasia/Hypoplasia of the iris Abnormal chorioretinal morphology Urethral atresia Pancreatic fibrosis True hermaphroditism Lobar holoprosencephaly Cystic liver disease Failure to thrive Abnormal facial shape Asplenia Oligohydramnios Sclerocornea Microcornea Lobulated tongue Squared iliac bones Hypoplastic facial bones Unicoronal synostosis Cataract Optic atrophy Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Full cheeks Postaxial foot polydactyly Sloping forehead Horizontal ribs Depressed nasal ridge Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum Anophthalmia Cleft soft palate Male pseudohermaphroditism Brachydactyly Cutis marmorata Anteverted nares Abnormal cortical gyration Heterotopia Holoprosencephaly Absent septum pellucidum Abnormal lung lobation Median cleft lip Upper limb undergrowth Broad neck Bilateral cleft lip Bilateral cleft lip and palate Tracheal stenosis Preaxial foot polydactyly Abnormality of the pinna Complete atrioventricular canal defect Bifid nose Abnormal vagina morphology Arrhinencephaly Laryngeal hypoplasia Duplication of phalanx of hallux Bifid uterus Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Oral cleft Hydronephrosis Cardiomyopathy Macroglossia Hypertonia Long philtrum Hernia Obesity Retrognathia Umbilical hernia Hypertrophic cardiomyopathy Wide mouth Severe global developmental delay Thin vermilion border Delayed myelination Hypospadias Ventricular hypertrophy Small nail Left ventricular hypertrophy Short chin Failure to thrive in infancy Hypoplastic pelvis Protruding tongue Severe failure to thrive Periorbital fullness Skull asymmetry Bifid tongue Ulnar deviation of the hand or of fingers of the hand Thoracic dysplasia Scoliosis Akinesia Hypoplasia of the brainstem Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Short stature Ptosis Decreased fetal movement High palate Epicanthus Syndactyly Pectus excavatum Clinodactyly of the 5th finger Kyphoscoliosis Deeply set eye Camptodactyly Hyperlordosis Hypsarrhythmia Cerebral calcification Retinopathy Brain atrophy Hepatic fibrosis Cystic renal dysplasia Agenesis of cerebellar vermis Motor delay Intellectual disability, severe Short nose Cerebral atrophy Poor speech Broad nasal tip Aganglionic megacolon Abnormality of metabolism/homeostasis Absence seizures Tented upper lip vermilion Elevated alkaline phosphatase Hyperphosphatemia Mild microcephaly Visual impairment Skeletal muscle atrophy Ventriculomegaly Dilatation Protruding ear Camptodactyly of finger Flat acetabular roof Prominent nose Camptodactyly of toe Respiratory insufficiency Midface retrusion Respiratory failure Macrotia Skeletal dysplasia Narrow chest Anal atresia Limb undergrowth Abnormality of the rib cage Renal hypoplasia Cerebellar vermis hypoplasia Rhizomelia Short ribs Spontaneous abortion Relative macrocephaly Thoracic hypoplasia Natal tooth Bell-shaped thorax Decreased hip abduction Down-sloping shoulders Finger syndactyly Interphalangeal joint contracture of finger Ophthalmoplegia Abnormality of the foot Facial asymmetry Abnormality of skin pigmentation Single transverse palmar crease Triangular face Limitation of joint mobility Webbed neck Lumbar hyperlordosis Short phalanx of finger Thoracolumbar scoliosis Abnormal vertebral morphology Congenital hip dislocation Knee flexion contracture Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Distal arthrogryposis Proximal tibial hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Bradycardia, related diseases and genetic alterations Congestive heart failure and Macular degeneration, related diseases and genetic alterations Strabismus and Large fontanelles, related diseases and genetic alterations Strabismus and Abnormality of skin pigmentation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more