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:
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
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
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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
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
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
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
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
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
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
|
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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
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