Cataract, and Bifid uvula
Diseases related with Cataract and Bifid uvula
In the following list you will find some of the most common rare diseases related to Cataract and Bifid uvula that can help you solving undiagnosed cases.
Top matches:
Medium match CATARACT 21, MULTIPLE TYPES; CTRCT21
Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea
Related symptoms:
- Cataract
- Delayed speech and language development
- Atrial septal defect
- Microphthalmia
- Autism
SOURCES: ORPHANET OMIM MENDELIAN
More info about CATARACT 21, MULTIPLE TYPES; CTRCT21Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome
Related symptoms:
- Cleft palate
- Cataract
- Cryptorchidism
- Blindness
- Microphthalmia
More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME
Medium match STICKLER SYNDROME TYPE 3
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type
Related symptoms:
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
SOURCES: OMIM ORPHANET MENDELIAN
More info about STICKLER SYNDROME TYPE 3
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Other less relevant matches:
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
More info about HOLOPROSENCEPHALY 2; HPE2
Medium match CRANIOLENTICULOSUTURAL DYSPLASIA
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about CRANIOLENTICULOSUTURAL DYSPLASIAMedium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Micrognathia
More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
Medium match WALKER-WARBURG SYNDROME
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about WALKER-WARBURG SYNDROMEMedium match BRANCHIOSKELETOGENITAL SYNDROME
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about BRANCHIOSKELETOGENITAL SYNDROMEMedium match MARSHALL SYNDROME
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Related symptoms:
- Short stature
- Hearing impairment
- Hypertelorism
- Nystagmus
- Micrognathia
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about MARSHALL SYNDROMEMedium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY
Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).
X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MENDELIAN
More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITYTop 5 symptoms//phenotypes associated to Cataract and Bifid uvula
| Symptoms // Phenotype | % cases |
|---|---|
| Cleft palate | Common - Between 50% and 80% cases |
| Malar flattening | Common - Between 50% and 80% cases |
| Midface retrusion | Common - Between 50% and 80% cases |
| Anteverted nares | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cataract and Bifid uvula. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment Strabismus Abnormal facial shape Scoliosis Delayed speech and language development Glaucoma Submucous cleft hard palate Long philtrum Wide nasal bridge Hypertelorism Retinal detachment Short stature Thin upper lip vermilion Microphthalmia Myopia Cryptorchidism Coloboma Seizures Global developmental delay Generalized hypotonia Depressed nasal bridge Low-set ears Macrocephaly Brachycephaly Frontal bossing High palate Posteriorly rotated ears Cerebellar hypoplasia Microcephaly Proptosis Sensorineural hearing impairment Micrognathia Microcornea Esotropia Renal dysplasia Hypoplasia of the maxilla Delayed eruption of teeth Flat face Thin vermilion border Iris coloboma Congenital cataract Hydronephrosis Downslanted palpebral fissures Abnormality of the dentition
Rare Symptoms - Less than 30% cases
Hypotelorism Anal atresia Broad forehead Synophrys Astigmatism Cleft lip Premature loss of teeth Low-set, posteriorly rotated ears Concave nasal ridge Facial asymmetry Mixed hearing impairment Pes planus Prominent nose Narrow forehead Wide nose Optic atrophy Smooth philtrum Prominent forehead Thickened calvaria Hypoplasia of the corpus callosum Carious teeth Sparse hair Ventriculomegaly Joint laxity Agenesis of corpus callosum Short nose Short neck Anophthalmia Megalocornea Amblyopia Hypoplasia of penis Patent ductus arteriosus Pectus excavatum Abnormal cortical gyration Arthralgia Retinopathy Pectus carinatum Joint hypermobility Blindness Osteoarthritis Atrial septal defect Dandy-Walker malformation Muscular hypotonia Nystagmus Pierre-Robin sequence Abnormal vitreous humor morphology Thoracolumbar kyphoscoliosis Metatarsus valgus Periorbital wrinkles Thoracolumbar scoliosis Eyelid coloboma Large earlobe Abnormality of the cerebellar vermis Cleft soft palate Phthisis bulbi Absent nipple Hypoglycosylation of alpha-dystroglycan Multiple impacted teeth Prominent nasal tip Remnants of the hyaloid vascular system Posterior fossa cyst Meningoencephalocele Abnormality of the cervical spine Bladder exstrophy Ureteral stenosis Penoscrotal hypospadias Abnormal levels of creatine kinase in blood Severe hydrocephalus Intellectual disability, moderate Anteriorly placed anus Wide intermamillary distance Telecanthus Craniosynostosis Short philtrum Thick eyebrow Downturned corners of mouth Thick vermilion border Highly arched eyebrow Umbilical hernia High forehead Broad nasal tip Dental malocclusion Mandibular prognathia Micropenis Macrogyria Hypospadias Recurrent infections Pointed chin Cutaneous syndactyly Syndactyly Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Keratitis Chorioretinal dysplasia Abnormality of the vertebral column Abnormal lactate dehydrogenase activity Bifid scrotum Cerebral calcification Submucous cleft soft palate Irregular proximal tibial epiphyses Feeding difficulties Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Macrodontia of permanent maxillary central incisor Recurrent respiratory infections Calcification of falx cerebri Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Hypoplastic ilia Respiratory distress Pes cavus Hypoplasia of the zygomatic bone Short palpebral fissure Abnormality of thyroid physiology Flared nostrils Lower limb asymmetry Abnormality of the genitourinary system Sacral dimple Choanal atresia Hypertrichosis Hip dysplasia Polydactyly Tapered finger Short foot Small hand Postaxial polydactyly Bulbous nose Hypermetropia Hip dislocation Thick upper lip vermilion Radial bowing Attached earlobe Abnormality of the shape of the midface Epicanthus Visual impairment Amelia involving the lower limbs Advanced pneumatization of the mastoid process Upper limb peromelia Lagopthalmos Abnormality of dentin Depressivity Abnormality of the vertebral spinous processes Unilateral cleft palate Rootless teeth Blepharochalasis Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Abnormality of the skeletal system Hyperhidrosis Vitreoretinopathy Recurrent otitis media Aplasia cutis congenita Sparse eyebrow Ectopia lentis Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Sparse scalp hair Platyspondyly Thick lower lip vermilion High myopia Agyria Otitis media Ectodermal dysplasia Genu valgum Hypotrichosis Excessive daytime sleepiness Areflexia Cerebellar cyst Prominent nasal bridge Median cleft lip and palate Single median maxillary incisor Cyclopia Single ventricle Proboscis Hypoplastic philtrum Absent nasal septal cartilage Aplasia of the nose Anterior pituitary agenesis Failure to thrive Gastroesophageal reflux Osteopenia Skeletal dysplasia Wide mouth Narrow chest Adrenal hypoplasia Coarse hair Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification Capillary hemangioma Brittle hair Prominent supraorbital ridges Hemangioma Pulmonic stenosis Wide anterior fontanel Hyperpigmentation of the skin Large fontanelles Microdontia Abnormality of skin pigmentation Joint hyperflexibility Chronic constipation Narrow nasal bridge High iliac wings Failure of eruption of permanent teeth Autism Autistic behavior Macular hypoplasia Cerulean cataract Cortical pulverulent cataract Visual loss Inguinal hernia Hypogonadism Gynecomastia Anosmia External genital hypoplasia Misalignment of teeth Hyposmia Abdominal wall muscle weakness Single naris Diabetes insipidus Glossoptosis Holoprosencephaly Exotropia Constipation Ptosis Abnormal metacarpal morphology Exostoses Arthropathy Absent nares Long fingers Spondyloepiphyseal dysplasia Mitral valve prolapse Arachnodactyly Hypoplasia of the olfactory bulb Abnormality of the midface Narrow iliac wings Sutural cataract Type II lissencephaly Atresia of the external auditory canal Abnormality of the cerebral white matter Cleft upper lip Oral cleft Polymicrogyria Retinal dystrophy Specific learning disability Intellectual disability, profound Cerebellar vermis hypoplasia Encephalocele Pachygyria Heterotopia Severe muscular hypotonia Lissencephaly Optic nerve hypoplasia Congenital contracture Corneal opacity Retinal dysplasia Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Bilateral cleft lip Congenital muscular dystrophy Retinal atrophy Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Muscular dystrophy Microtia Posterior Y-sutural cataract Narrow mouth Hypercalciuria Nephrocalcinosis Finger clinodactyly Dental crowding Talipes Conductive hearing impairment Clinodactyly of the 5th finger Severe sensorineural hearing impairment Clinodactyly Talipes equinovarus Anemia Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Patent foramen ovale Large forehead Protruding ear Skeletal muscle atrophy Elevated serum creatine phosphokinase Hyporeflexia Dilatation Myopathy Intellectual disability, severe Hydrocephalus Intrauterine growth retardation Elliptocytosis Flexion contracture Muscle weakness Growth delay Cleft hard palate Mild conductive hearing impairment Broad distal phalanx of finger Unilateral breast hypoplasia
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