Cleft palate, and High myopia

Diseases related with Cleft palate and High myopia

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


Top matches:

High match STICKLER SYNDROME TYPE 2


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

Medium match STICKLER SYNDROME, TYPE V; STL5


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE V; STL5

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


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

Mendelian

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

Learn more

Other less relevant matches:

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Medium match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Top 5 symptoms//phenotypes associated to Cleft palate and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Retinal detachment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cataract Micrognathia Midface retrusion Pectus carinatum Short neck Gait disturbance Rhizomelia Micromelia Platyspondyly Hypertelorism Vitreoretinopathy Malar flattening Proptosis Glaucoma Abnormality of epiphysis morphology Abnormality of the metaphysis Intellectual disability Scoliosis Dumbbell-shaped long bone Skeletal dysplasia Camptodactyly Severe short stature Anteverted nares Narrow chest Hip dislocation Osteoarthritis Pectus excavatum Glossoptosis

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Narrow mouth Short thorax Arachnodactyly Bell-shaped thorax Retinopathy Megalocornea Abnormality of the pinna Abnormal form of the vertebral bodies Limb undergrowth Webbed neck Low-set ears Depressed nasal bridge Cryptorchidism Talipes equinovarus Generalized hypotonia Flat face Joint stiffness Muscular hypotonia Ptosis Clinodactyly of the 5th finger Hypoplastic toenails Recurrent fractures Spondyloepiphyseal dysplasia Inguinal hernia Hyperlordosis Hypoplastic scapulae Frontal bossing Brachydactyly Hernia Short nose Kyphosis Round face Coxa vara Respiratory distress Arthropathy Pain Conductive hearing impairment Umbilical hernia Osteoporosis High palate Macrocephaly Short foot Omphalocele Depressivity Wide anterior fontanel Abnormality of the ribs Small hand Hydrops fetalis Short palm Retrognathia Joint contracture of the hand Camptodactyly of finger Abnormality of the skeletal system Syndactyly Respiratory insufficiency Long philtrum Hypoplastic ilia Flared metaphysis Ectopia lentis Chorioretinal atrophy Hip contracture Short ribs Tracheomalacia Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Enlarged joints Recurrent otitis media Coronal cleft vertebrae Enlarged thorax Lens luxation Rhegmatogenous retinal detachment Lumbar kyphoscoliosis Joint dislocation Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Neonatal respiratory distress Sciatica Limitation of knee mobility Plagiocephaly Back pain Autoimmunity Broad forehead Genu valgum Paresthesia Retinal degeneration Pulmonary hypoplasia Limitation of joint mobility Waddling gait Lumbar hyperlordosis Abnormal lung morphology Sleep apnea Growth abnormality Genu varum Bowing of the legs Apnea Vestibular dysfunction Neonatal short-trunk short stature Restrictive ventilatory defect Progressive sensorineural hearing impairment Disproportionate short stature Hypoplasia of the odontoid process Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Limited hip movement Retinoschisis Respiratory tract infection Arthritis Short long bone Long clavicles Patent foramen ovale Thoracic hypoplasia Thin ribs Fibular hypoplasia Protuberant abdomen Hearing abnormality Hypoplastic fingernail Bifid tongue Broad ribs Metaphyseal cupping Abnormal diaphysis morphology Hypoplastic ischia Delayed pubic bone ossification Anterior rib cupping Polydactyly Broad long bones Narrow greater sacrosciatic notches Thin clavicles Posterior rib cupping Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Widely patent sagittal suture Growth delay Nystagmus Muscle weakness Hypertension Congestive heart failure Motor delay High, narrow palate Flexion contracture Keratoglobus Cutis laxa Corneal dystrophy Hyperextensible skin Increased susceptibility to fractures Hallux valgus Keratoconus Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Decreased corneal thickness Blue sclerae Abnormality of hair pigmentation Microcephaly Strabismus Anemia Visual impairment Wide nasal bridge Intrauterine growth retardation Abnormality of cardiovascular system morphology Macrotia Photophobia Low-set, posteriorly rotated ears Severe global developmental delay Congenital hip dislocation Mitral valve prolapse Anal atresia Metaphyseal widening Corneal opacity Abnormal vitreous humor morphology Arthralgia Abnormality of the eye Epiphyseal dysplasia Abnormal joint morphology Exostoses Pierre-Robin sequence Cleft soft palate Premature osteoarthritis Enlarged epiphyses Premature birth Femoral bowing Hip dysplasia Short femur Upper airway obstruction Edema Abnormality of the dentition Visual loss Pes planus Neonatal hypotonia Myalgia Pulmonic stenosis Joint hyperflexibility Joint hypermobility Bruising susceptibility Microcornea Congenital cataract Convex nasal ridge Asymmetry of the ears Spontaneous abortion Bulbous nose Postural instability Generalized myoclonic seizures Bifid uvula Wide intermamillary distance Intellectual disability, profound Thick lower lip vermilion Broad-based gait Tall stature Dental crowding Hyperpigmentation of the skin Narrow face Nasal speech Smooth philtrum Sparse eyebrow Decreased muscle mass Disproportionate tall stature Long fingers Slender finger Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Unsteady gait Abnormality of movement Hypoplasia of penis Global developmental delay Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Seizures Abnormal facial shape Facial asymmetry Cognitive impairment Delayed speech and language development Dysarthria Absent speech Myoclonus Brachycephaly Mandibular prognathia Kyphoscoliosis Difficulty walking Intellectual disability, moderate Short philtrum Prominent nasal bridge Synophrys Delayed calcaneal ossification



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Renal cell carcinoma, related diseases and genetic alterations Lymphoma and Encephalitis, related diseases and genetic alterations Tremor and Amyotrophic lateral sclerosis, related diseases and genetic alterations Epicanthus and Ulcerative colitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more