Cleft palate, and Strabismus

Diseases related with Cleft palate and Strabismus

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


Top matches:

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

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Other less relevant matches:

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Low match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Low match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Low match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Low 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 Strabismus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Seizures Frontal bossing Hydrocephalus Exotropia Coloboma Microphthalmia Nystagmus Abnormal facial shape Anteverted nares Midface retrusion Hypertelorism

Rare Symptoms - Less than 30% cases


Single median maxillary incisor Craniosynostosis Syndactyly Malar flattening Bifid uvula Heterotopia 2-3 toe syndactyly Proboscis Cyclopia Underdeveloped supraorbital ridges Abnormality of the pinna Synophrys Turricephaly Holoprosencephaly Hypotelorism Depressed nasal bridge Microcornea Astigmatism Macrocephaly Polymicrogyria Abnormality of cardiovascular system morphology Abnormality of the skeletal system Mandibular prognathia Scoliosis Proptosis Cleft lip Cleft upper lip Oral cleft Optic atrophy Cryptorchidism Visual impairment Cataract Patent ductus arteriosus Autistic behavior Hypermetropia Median cleft lip and palate High palate Preaxial foot polydactyly Intellectual disability, severe Chronic constipation Adrenal hypoplasia Upslanted palpebral fissure Broad forehead Macrotia Narrow pelvis bone Elbow ankylosis Recurrent fractures Aplasia of the nose Camptodactyly of finger Narrow chest Talipes Absent nasal septal cartilage Arachnodactyly Abnormality of the ribs Abnormal renal morphology Choanal atresia Delayed cranial suture closure Femoral bowing Hypoplastic philtrum Single ventricle Hypoplasia of the zygomatic bone Submucous cleft hard palate Narrow nasal bridge Narrow forehead Epidermal acanthosis Headache Joint stiffness Anterior plagiocephaly Abnormality of fibula morphology Hypoplasia of the maxilla Convex nasal ridge Symphalangism affecting the phalanges of the hand Exencephaly Acanthosis nigricans Abnormal palate morphology Short metatarsal Broad hallux Shallow orbits Split foot Craniofacial dysostosis Broad metatarsal Broad hallux phalanx Scaphocephaly Deep philtrum Trigonocephaly Absent thumb Diabetes insipidus Abnormality of digit Facial cleft Agenesis of corpus callosum Hallux varus Cerebellar hypoplasia Constipation Low-set ears Muscular hypotonia Small posterior fossa Calcaneonavicular fusion Genu valgum Abnormality of vision Low-set, posteriorly rotated ears Limb hypertonia Autism EEG abnormality Hydronephrosis Attention deficit hyperactivity disorder Delayed myelination Hypsarrhythmia Cerebral visual impairment Impaired smooth pursuit Hypertonia Micrognathia Flexion contracture Myopia Hypoplasia of the corpus callosum Absent speech Deeply set eye Muscular hypotonia of the trunk Hyperactivity Failure to thrive Abnormality of neuronal migration Glaucoma Short stature Feeding difficulties Atrial septal defect Abnormality of the dentition Thin vermilion border Coarctation of aorta Sensorineural hearing impairment Corneal opacity Neural tube defect Iris coloboma Hematuria Retinal detachment Chorioretinal coloboma Posterior embryotoxon Bilateral cleft lip Bilateral cleft lip and palate Toe syndactyly Cortical dysplasia Narrow mouth Heterochromia iridis Hypopigmented skin patches Tented upper lip vermilion Congenital sensorineural hearing impairment Premature graying of hair Hypopigmentation of hair Sprengel anomaly Meningocele White hair Abnormality of the hair White forelock Lacrimation abnormality White eyelashes White eyebrow Downslanted palpebral fissures Long philtrum Brachycephaly Spina bifida Aganglionic megacolon Epicanthus Narrow palpebral fissure Hypospadias Polydactyly Micropenis Retrognathia Postaxial polydactyly Renal cyst Encephalocele Sacral dimple Underdeveloped nasal alae Molar tooth sign on MRI Occipital encephalocele Anencephaly Wide nasal bridge Telecanthus Abnormality of the eye Thick eyebrow Anterior pituitary agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Joint laxity, related diseases and genetic alterations Brachydactyly and Pes cavus, related diseases and genetic alterations Flexion contracture and Apraxia, related diseases and genetic alterations Failure to thrive and Single transverse palmar crease, related diseases and genetic alterations Failure to thrive and Gastroesophageal reflux, related diseases and genetic alterations Microcephaly and Progressive visual loss, related diseases and genetic alterations

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