Cataract, and Convex nasal ridge

Diseases related with Cataract and Convex nasal ridge

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


Top matches:

Medium match ACROGERIA


ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Medium match OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

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Other less relevant matches:

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

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 FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Medium match WARBURG MICRO SYNDROME 1; WARBM1


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Top 5 symptoms//phenotypes associated to Cataract and Convex nasal ridge

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Congenital cataract Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Convex nasal ridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Hearing impairment Retrognathia Short stature Abnormal facial shape Seizures Generalized hypotonia Hypertelorism Failure to thrive Cryptorchidism Low-set ears Deeply set eye Micropenis Microphthalmia Macrotia Growth delay Flexion contracture Global developmental delay Visual impairment

Rare Symptoms - Less than 30% cases


Ptosis High palate Epicanthus Optic atrophy Strabismus Severe global developmental delay Osteoporosis Delayed speech and language development Motor delay Posterior synechiae of the anterior chamber Nystagmus Large fontanelles Ventriculomegaly Neonatal hypotonia Hypoplasia of the corpus callosum Cleft palate Progressive muscle weakness Muscular hypotonia Polymicrogyria Protruding ear Spasticity Cardiomyopathy Intrauterine growth retardation Kyphoscoliosis Large beaked nose Joint hypermobility Congestive heart failure Pneumonia Thin skin Scoliosis Enlarged cisterna magna Ataxia Sensorineural hearing impairment Anteverted ears Abnormal pupil morphology Retinal coloboma Hepatomegaly Skeletal muscle atrophy Arthrogryposis multiplex congenita Synostosis of joints Behavioral abnormality Midface retrusion Absent speech External genital hypoplasia Arrhythmia Rod-cone dystrophy Cortical dysplasia Acidosis High forehead Jaundice Neurodevelopmental delay Spastic diplegia Facial palsy Overlapping toe Anteverted nares Foot oligodactyly Crossed fused renal ectopia Ectropion Hemivertebrae Narrow palate Abnormality of dental enamel Abnormal dermatoglyphics Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum Systemic lupus erythematosus Radioulnar synostosis Elbow dislocation Hypoplasia of the ulna Bilateral renal hypoplasia Mixed hearing impairment Absent thumb Abnormality of digit Congenital hypothyroidism Facial hypertrichosis Posterior uveitis Oligodactyly Synostosis of carpal bones Absent toenail Absent fingernail Respiratory tract infection Hyperglycinuria Postnatal growth retardation Dolichocephaly Retinopathy Cerebral atrophy Tetraparesis Short palpebral fissure Delayed myelination Brain atrophy Tetraplegia Muscle weakness Hyperreflexia Intellectual disability, severe Cerebellar atrophy Hypertonia Long philtrum Cerebellar hypoplasia Pachygyria Agenesis of corpus callosum Severe short stature Posteriorly rotated ears Hypogonadism Upslanted palpebral fissure Brachycephaly Glaucoma Microcornea Cerebral cortical atrophy Narrow mouth Muscular hypotonia of the trunk Coloboma Hypertrichosis Postnatal microcephaly Nyctalopia Spinal muscular atrophy Corneal opacity Ichthyosis Cirrhosis Renal cyst Esotropia Abnormality of the face Nephrolithiasis Abnormality of epiphysis morphology Rhizomelia Bilateral cryptorchidism Hepatic fibrosis Leukodystrophy Hyperextensible skin Elevated levels of phytanic acid Impulsivity Constriction of peripheral visual field Cerebral palsy Severe hearing impairment Epiphyseal stippling Spastic tetraparesis Hypocholesterolemia Hyperoxaluria Progressive spinal muscular atrophy Short thumb Cerebral visual impairment Very long chain fatty acid accumulation Congenital hip dislocation Iris atrophy Abnormality of the genital system Abnormality of calvarial morphology Bowing of the long bones Wormian bones Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Metaphyseal widening Tibial bowing Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Broad long bones Beaded ribs Coarctation of aorta Crumpled long bones Absent ossification of calvaria Ventricular septal defect Talipes equinovarus Atrial septal defect Hernia Inguinal hernia Hypertrophic cardiomyopathy Camptodactyly Blepharophimosis Bulbous nose Triangular face Sepsis Blue sclerae Premature birth Focal-onset seizure Irregular hyperpigmentation Skeletal dysplasia Joint hyperflexibility Small hand Short foot Abnormality of the skin Fine hair Skin ulcer Dermal atrophy Lipoatrophy Aplasia/Hypoplasia of the skin Telangiectasia of the skin Prematurely aged appearance Premature skin wrinkling Recurrent fractures Excessive wrinkled skin Cigarette-paper scars Sparse hair Camptodactyly of finger Single transverse palmar crease Interphalangeal joint contracture of finger Cutaneous photosensitivity Scrotal hypoplasia Rocker bottom foot Respiratory insufficiency Abnormality of the dentition Small for gestational age Platyspondyly Gliosis Sloping forehead Abnormal form of the vertebral bodies Syndactyly Ectopic anus Nuclear cataract Pulverulent cataract Visual loss Wide nose Prominent nose Dental malocclusion Ectopia lentis Depressed nasal bridge Frontal bossing Short nose Malar flattening Prominent forehead Increased serum ferritin Proptosis Hypothyroidism Short philtrum Prominent nasal bridge Finger syndactyly Hip dislocation Toe syndactyly Micromelia High, narrow palate Hypodontia Renal agenesis Abnormality of the ribs Renal hypoplasia Abnormality of the elbow Iron deficiency anemia Pointed chin Short neck Narrow palpebral fissure Cutis laxa Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Disproportionate tall stature Entropion Cavum septum pellucidum Wide nasal base Narrow naris Anemia Myopia Abnormality of cardiovascular system morphology Microcytic anemia Clinodactyly of the 5th finger Photophobia Low-set, posteriorly rotated ears Joint stiffness Anal atresia Webbed neck Hypoplasia of penis High myopia Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microphakia



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