Cataract, and Hypoplasia of the maxilla

Diseases related with Cataract and Hypoplasia of the maxilla

In the following list you will find some of the most common rare diseases related to Cataract and Hypoplasia of the maxilla that can help you solving undiagnosed cases.


Top matches:

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Low match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

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Other less relevant matches:

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Low match FRONTORHINY


Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Low 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 DYSPLASIA

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Top 5 symptoms//phenotypes associated to Cataract and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Hypoplasia of the maxilla. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Narrow mouth Micrognathia High palate Intellectual disability, mild Microphthalmia Abnormality of dental morphology Brachycephaly Seizures Long philtrum Lumbar hyperlordosis Pulmonic stenosis Hypoplasia of teeth Hypertelorism Brachydactyly Hypothyroidism Hearing impairment Cryptorchidism

Rare Symptoms - Less than 30% cases


Kyphosis Anophthalmia Coloboma Micropenis Angioid streaks of the fundus Fibroadenoma of the breast Iris coloboma Large fontanelles Dental malocclusion Microcornea Delayed eruption of teeth Thin vermilion border Joint laxity Encephalocele Intention tremor Pectus excavatum Meningioma Thyroid adenoma Subcutaneous lipoma Hamartomatous polyposis Ovarian cyst Furrowed tongue Hydrocele testis Varicocele Progressive macrocephaly Skin tags Abnormality of the cardiovascular system Hashimoto thyroiditis Transitional cell carcinoma of the bladder Thyroiditis Hyperthyroidism Frontal bossing Palmoplantar hyperkeratosis Breast carcinoma Gynecomastia Colonic diverticula Goiter Midface retrusion Downslanted palpebral fissures Mitral valve prolapse Broad metacarpals Broad metatarsal Blindness Shallow anterior chamber Thin bony cortex Broad ribs Misalignment of teeth Shallow orbits Spinal canal stenosis Skeletal dysplasia Joint hyperflexibility Depressed nasal bridge Broad skull Ventricular septal defect Proportionate short stature Broad palm Ectopia lentis Narrow palate Aortic valve stenosis Thickened skin Mitral regurgitation High myopia Joint stiffness Glaucoma Abnormal heart morphology Microspherophakia Patent ductus arteriosus Global developmental delay Epicanthus Delayed speech and language development Broad phalanges of the hand Low-set ears Failure to thrive Agenesis of corpus callosum Proptosis Visual loss Abnormal facial shape Wide nasal bridge Macrocephaly Optic atrophy Anteverted nares Prominent forehead Malar flattening Short middle phalanx of finger Gastroesophageal reflux Osteopenia Pes planus Arnold-Chiari malformation Thin upper lip vermilion Optic nerve hypoplasia Posterior embryotoxon Arthralgia Retinal dysplasia Aglossia Proboscis Macular scar Mandibular aplasia Ectopic posterior pituitary Central hypothyroidism Hypoplasia of the fovea Platyspondyly Abnormality of vertebral epiphysis morphology Abnormal vitreous humor morphology Abnormality of epiphysis morphology Osteoarthritis Microglossia Retinal detachment Short nose Microretrognathia Wide mouth Intellectual disability, severe Posterior Y-sutural cataract Scarring Decreased skull ossification Delayed closure of the anterior fontanelle Narrow iliac wings High iliac wings Photophobia Sutural cataract Posterior wedging of vertebral bodies Capillary hemangioma Punctate cataract Forehead hyperpigmentation Generalized hypotonia Nystagmus Talipes equinovarus Posteriorly rotated ears Respiratory insufficiency Respiratory distress Retinopathy Premature loss of teeth Sparse hair Wide nose Prominent nasal bridge Narrow chest Carious teeth Smooth philtrum Pigmentary retinopathy Retinal dystrophy Abnormality of skin pigmentation Bifid uvula Brittle hair Prominent nose Esotropia Microdontia Astigmatism Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Hyperpigmentation of the skin Aplasia of the nose Absent paranasal sinuses Persistent pupillary membrane Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Macrodontia of permanent maxillary central incisor Long nose Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Strabismus Ptosis Low-set, posteriorly rotated ears Camptodactyly of finger Preauricular skin tag Basal ganglia calcification Hyperostosis Aplasia/Hypoplasia of the corpus callosum Short foot Syndactyly Clinodactyly Delayed skeletal maturation Deeply set eye Telecanthus Toe syndactyly Small hand Triangular face Sparse eyelashes Osteoporosis Underdeveloped nasal alae Overgrowth Short palpebral fissure Fine hair Sparse scalp hair Dental crowding Abnormality of dental enamel Finger clinodactyly Diabetes insipidus Abnormality of the dentition Preauricular pit Primary amenorrhea Choanal atresia Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Agenesis of permanent teeth Delayed puberty Hypoplastic labia majora Hyposmia Lacrimation abnormality Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Broad nasal tip Synophrys Hypopituitarism Basal encephalocele Widow's peak Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Midline nasal groove Visual impairment Muscular dystrophy Edema Sensorineural hearing impairment Hernia Hypospadias Inguinal hernia Hypogonadism Cleft lip Corneal opacity Myopic astigmatism



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