Cleft palate, and Myopia

Diseases related with Cleft palate and Myopia

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

Top matches:

A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE V; STL5

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Other less relevant matches:

Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

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

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Myopia

Symptoms // Phenotype % cases
Retinal detachment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vitreoretinopathy Hearing impairment Short stature High myopia Abnormal vitreous humor morphology Micrognathia Abnormality of epiphysis morphology Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Flat face Micromelia Narrow chest Epiphyseal dysplasia Genu valgum Premature osteoarthritis Intellectual disability Glossoptosis Cleft soft palate Arthralgia Midface retrusion Malar flattening Proptosis Frontal bossing Joint hyperflexibility Hypermetropia Brachydactyly Short femur Scoliosis Enlarged epiphyses Pierre-Robin sequence Exostoses Arthropathy Upper airway obstruction Nystagmus Abnormal joint morphology Dumbbell-shaped long bone Pectus carinatum Abnormality of the eye Astigmatism Amblyopia Hypertelorism Short neck Talipes equinovarus Premature birth Long philtrum Short nose Short thorax Hypoplasia of the maxilla Mitral valve prolapse Limitation of joint mobility Abnormality of vertebral epiphysis morphology Rhizomelia Visual loss Broad forehead Hyperlordosis Glaucoma Metaphyseal widening Femoral bowing Kyphosis Hypoplastic scapulae Coxa vara Feeding difficulties Pectus excavatum Wormian bones Brachyturricephaly Anterior plagiocephaly Cloverleaf skull Coronal craniosynostosis Turricephaly Increased number of teeth Visual field defect Triphalangeal thumb Trigonocephaly Hypotelorism Bicoronal synostosis Narrow forehead Dolichocephaly Craniosynostosis Brachycephaly Headache Downslanted palpebral fissures Seizures Corneal opacity Retinopathy Metopic synostosis Unicoronal synostosis Anteverted nares Generalized hypotonia Coarctation of aorta Thin vermilion border Autistic behavior Patent ductus arteriosus Abnormality of the dentition Atrial septal defect Cryptorchidism Strabismus Microcephaly Global developmental delay Visual impairment Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Rhegmatogenous retinal detachment Epiphora Nyctalopia Retrognathia Blindness Epicanthus Irregular vertebral endplates


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