Cleft palate, and Cerebellar hypoplasia

Diseases related with Cleft palate and Cerebellar hypoplasia

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Medium 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

Medium match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Mendelian

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

Learn more

Other less relevant matches:

Medium match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Medium match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Medium match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Medium 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

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 STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Medium match AMISH LETHAL MICROCEPHALY


Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Top 5 symptoms//phenotypes associated to Cleft palate and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Low-set ears 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 Cerebellar hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly Cataract Hypertelorism Microphthalmia Agenesis of corpus callosum Flexion contracture Ptosis Decreased fetal movement Intellectual disability Seizures Cleft lip Cerebellar vermis hypoplasia Growth delay Hydrocephalus Lissencephaly

Rare Symptoms - Less than 30% cases


Hypoplasia of the brainstem Anal atresia Intestinal malrotation Holoprosencephaly Asplenia Visual impairment Peters anomaly Duodenal atresia Single ventricle Microcornea Abnormal facial shape Wide nasal bridge Midface retrusion Short columella Astigmatism Dilatation Coloboma Scoliosis Hearing impairment Muscular hypotonia Failure to thrive Macrocephaly Hypertonia Muscle weakness Congenital cataract Arthrogryposis multiplex congenita Nystagmus Talipes equinovarus Intrauterine growth retardation Ataxia Oligohydramnios Anteverted nares Muscular dystrophy Elevated serum creatine phosphokinase Hypoplasia of the pons Intellectual disability, severe Feeding difficulties Hypsarrhythmia Moderate myopia Neonatal hypotonia Skeletal muscle atrophy Abnormality of metabolism/homeostasis Polyhydramnios Premature birth Dandy-Walker malformation Cerebral calcification Microretrognathia Cerebellar cyst Pterygium Akinesia Cystic hygroma Fetal akinesia sequence Hydranencephaly Glaucoma Limb joint contracture Multiple pterygia Persistent pupillary membrane Heterotopia Abnormality of the cerebral white matter Intellectual disability, profound Pachygyria Aplasia/Hypoplasia of the corpus callosum Congenital contracture Congenital muscular dystrophy Sensorineural hearing impairment Skeletal muscle hypertrophy Encephalocele Congenital glaucoma Macroglossia Severe muscular hypotonia Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Severe hydrocephalus Buphthalmos Polymicrogyria Cleft upper lip Hypermetropia Cerebellar dysplasia Type II lissencephaly Hypothyroidism Cognitive impairment Spina bifida Osteopenia Muscular hypotonia of the trunk Irritability Severe global developmental delay Generalized tonic-clonic seizures Lactic acidosis Metabolic acidosis Limitation of joint mobility Aciduria Sloping forehead Progressive microcephaly Partial agenesis of the corpus callosum Osteoporosis Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Dilation of lateral ventricles Cleft soft palate Organic aciduria Severe lactic acidosis Congenital microcephaly Spinal dysraphism Temperature instability Acidosis Myoclonus Myopathy Preaxial polydactyly Deeply set eye Hydronephrosis Abnormality of the pinna Wide mouth Prominent nasal bridge Malabsorption Iris coloboma Prominent nose Renal hypoplasia Short palpebral fissure Optic nerve hypoplasia Sclerocornea Encephalopathy Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Hepatomegaly Optic atrophy Polydactyly Aplasia of the nose Respiratory insufficiency Abdominal situs inversus Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abnormal lung lobation Double outlet right ventricle Myelomeningocele Polysplenia Short stature Pulmonary artery atresia Heterotaxy Situs inversus totalis Biliary atresia Common atrium Rocker bottom foot Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Cutaneous photosensitivity Cryptorchidism High palate Frontal bossing Cardiomegaly Brain atrophy Inferior vermis hypoplasia Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Molar tooth sign on MRI Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Micropenis Renal agenesis Ventricular septal defect Atrial septal defect Patent ductus arteriosus Arrhythmia Abnormal heart morphology Recurrent respiratory infections Respiratory tract infection Pulmonic stenosis Recurrent infections Dyskinesia Delayed speech and language development Syndactyly Myopia Submucous cleft hard palate Hypoglycosylation of alpha-dystroglycan Short nose Malar flattening Constipation Inability to walk Bifid uvula Hypotelorism Exotropia Diabetes insipidus Narrow nasal bridge Adrenal hypoplasia Edema Chronic constipation Median cleft lip and palate Single median maxillary incisor Cyclopia Proboscis Hypoplastic philtrum Absent nasal septal cartilage Growth hormone deficiency Anterior pituitary agenesis Absent speech Strabismus Upper eyelid coloboma Brachycephaly Wide anterior fontanel Narrow mouth Gastroesophageal reflux Craniosynostosis Microtia Short philtrum Narrow chest Talipes Hirsutism Underdeveloped nasal alae Choanal atresia Generalized hirsutism Median cleft palate Cutaneous syndactyly Overfolded helix Cupped ear Bilateral talipes equinovarus Long fingers Prominent metopic ridge Short clavicles Broad neck Widow's peak Velopharyngeal insufficiency Small anterior fontanelle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Lumbar hyperlordosis, related diseases and genetic alterations Fever and Umbilical hernia, related diseases and genetic alterations Obesity and Atherosclerosis, related diseases and genetic alterations Immunodeficiency and Hypothyroidism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more