Cleft palate, and Agenesis of corpus callosum

Diseases related with Cleft palate and Agenesis of corpus callosum

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


Top matches:

Medium match MICROPHTHALMIA, SYNDROMIC 11; MCOPS11


Related symptoms:

  • Global developmental delay
  • Cleft palate
  • Microphthalmia
  • Agenesis of corpus callosum
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 11; MCOPS11

Medium 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

Medium match HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

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Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME TYPE 5


Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Medium 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

Medium 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

Medium match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

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

Top 5 symptoms//phenotypes associated to Cleft palate and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Cleft lip Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Holoprosencephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micrognathia Hydrocephalus Hypotelorism Scoliosis Midface retrusion Retrognathia Oral cleft Microcephaly Bifid uvula Abnormal facial shape Postaxial polydactyly Polydactyly Macrocephaly Cleft upper lip

Rare Symptoms - Less than 30% cases


Brachydactyly Wide nasal bridge Abnormality of the pinna Malar flattening Seizures Submucous cleft hard palate Coloboma Hearing impairment Nystagmus Absent nasal septal cartilage Adrenal hypoplasia Depressed nasal tip Single median maxillary incisor Downslanted palpebral fissures Median cleft lip and palate Iris coloboma Short nose Anteverted nares Alobar holoprosencephaly Proboscis Micromelia High palate Deeply set eye Hypertelorism Abnormal heart morphology Median cleft lip Ventricular septal defect Anencephaly Frontal bossing Postaxial hand polydactyly Cryptorchidism Bilateral cleft lip and palate Ventriculomegaly Bilateral cleft lip Polyhydramnios Panhypopituitarism Bilateral microphthalmos Cyclopia Broad face Partial agenesis of the corpus callosum Flat occiput Omphalocele Single ventricle Dental malocclusion Prominent nose Highly arched eyebrow Narrow nasal bridge Smooth philtrum Broad forehead Protruding ear Thin upper lip vermilion Macrotia Upslanted palpebral fissure Hypoplastic philtrum Aplasia of the nose Epicanthus Chronic constipation Hypoplasia of the premaxilla Diabetes insipidus Cerebellar hypoplasia Muscular hypotonia Strabismus Generalized hypotonia Optic nerve coloboma Ptosis Broad neck Cupped ear Prominent nasal bridge Constipation High forehead Patent ductus arteriosus Astigmatism Midline defect of the nose Pectus excavatum Microcornea Short neck Visual impairment Sensorineural hearing impairment Short stature Flat nasal alae Fusion of the left and right thalami Exotropia Cataract Semilobar holoprosencephaly Parietal bossing Choanal atresia Posteriorly rotated ears Synotia Premature birth Hypospadias Syndactyly Abnormality of the skeletal system Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Arrhinencephaly Abnormality of the respiratory system Absent septum pellucidum Anophthalmia Laryngomalacia Low-set, posteriorly rotated ears Wide intermamillary distance Abnormality of cardiovascular system morphology Lobulated tongue Postaxial foot polydactyly Horseshoe kidney Aganglionic megacolon Polysplenia Growth hormone deficiency Thick eyebrow Synophrys Proptosis Molar tooth sign on MRI Preaxial polydactyly Agenesis of pineal gland Micropenis Ambiguous genitalia Aglossia Pulmonary hypoplasia Laryngeal hypoplasia Hypoplasia of the epiglottis Mandibular aplasia Hyperplasia of the maxilla Stenosis of the external auditory canal Microglossia Tracheomalacia Transposition of the great arteries Atresia of the external auditory canal Abnormality of the outer ear Situs inversus totalis Intestinal malrotation Hypoplasia of the maxilla Anal atresia Sandal gap Abnormality of the eye Conductive hearing impairment Narrow mouth Atrial septal defect Respiratory distress Talipes equinovarus Ulnar deviation of the hand or of fingers of the hand Microphallus Ulnar deviation of the hand Shield chest Barrel-shaped chest Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Anterior pituitary agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Hip dislocation, related diseases and genetic alterations Intellectual disability, severe and Ventriculomegaly, related diseases and genetic alterations Depressed nasal bridge and Hypopigmentation of the skin, related diseases and genetic alterations Peripheral neuropathy and Ascites, related diseases and genetic alterations

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