Depressed nasal bridge, and Glaucoma

Diseases related with Depressed nasal bridge and Glaucoma

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


Top matches:

High 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

High 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

High 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:

High match AXENFELD-RIEGER SYNDROME


Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

High match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

High match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

High 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

High match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

High 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 SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Glaucoma

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Hypoplasia of the maxilla Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Joint stiffness Intellectual disability Global developmental delay Brachycephaly Malar flattening Ectopia lentis Patent ductus arteriosus Scoliosis Sensorineural hearing impairment High myopia Abnormal heart morphology Blindness Telecanthus Aortic valve stenosis Hypertelorism Wide nasal bridge Proptosis Abnormal facial shape Abnormality of the skeletal system Umbilical hernia Seizures Short neck Short stature Craniosynostosis Retinal detachment

Rare Symptoms - Less than 30% cases


Thoracolumbar scoliosis Hepatomegaly Long philtrum Retinal degeneration Wide nose Thick vermilion border Recurrent infections Splenomegaly Pectus excavatum Epicanthus Strabismus Retinopathy Lens luxation Concave nasal ridge Vitreoretinopathy Cerebellar vermis hypoplasia Bilateral sensorineural hearing impairment Chorioretinal atrophy Thin upper lip vermilion Hyperlordosis Pectus carinatum Macrocephaly Meningocele Encephalocele Broad nasal tip Calvarial skull defect Wide mouth Phthisis bulbi Alopecia Ventriculomegaly Ptosis Skeletal dysplasia Cryptorchidism Microcephaly Anteverted nares Abnormal vitreous humor morphology Micrognathia Visual impairment Cleft palate Mandibular prognathia Everted lower lip vermilion Ureteral stenosis Motor delay Spinal canal stenosis Spondyloepiphyseal dysplasia Osteoarthritis Lumbar hyperlordosis Mitral regurgitation Proportionate short stature Mitral valve prolapse Shallow orbits Pulmonic stenosis Broad phalanges of the hand Broad skull Misalignment of teeth Microspherophakia Broad metacarpals Broad metatarsal Broad ribs Growth delay Thickened skin Shallow anterior chamber Atrial septal defect Brachydactyly Ventricular septal defect Hypospadias Hernia Narrow palate Retrognathia Intellectual disability, mild Bifid uvula Glossoptosis Abnormality of dental morphology Broad palm Arthropathy Thin bony cortex Bulbous nose Joint hyperflexibility Congenital cataract Polymicrogyria Narrow face Vesicoureteral reflux Progressive visual loss Thin skin Pachygyria Abnormality of the hair Horizontal nystagmus Macular degeneration Abnormality of the metaphysis Corneal dystrophy Pyloric stenosis Dextrocardia Cortical dysplasia Recurrent otitis media Absent septum pellucidum Occipital encephalocele Leukemia Hydrocephalus Nyctalopia Coronal cleft vertebrae Neonatal respiratory distress Short thorax Hip contracture Tracheomalacia Coxa vara Bell-shaped thorax Joint dislocation Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Rhizomelia Hypoplastic ilia Enlarged joints Enlarged thorax Mental deterioration Generalized hypotonia Visual loss Cerebral atrophy Cerebellar atrophy Flared metaphysis Nystagmus Ataxia Abnormal cartilage collagen Rhegmatogenous retinal detachment Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Abnormality of epiphysis morphology Lumbar kyphoscoliosis Dumbbell-shaped long bone Acute lymphoblastic leukemia Aplasia cutis congenita Unilateral cleft palate Large forehead Submucous cleft hard palate Absent nipple Cleft soft palate Large earlobe Eyelid coloboma Megalocornea Premature loss of teeth Anteriorly placed anus Abnormality of the cervical spine Thickened calvaria Advanced pneumatization of the mastoid process Abnormality of the vertebral column Mixed hearing impairment Keratitis Bifid scrotum Prominent nasal tip Bladder exstrophy Pointed chin Abnormality of the sella turcica Abnormality of the vertebral spinous processes Abnormality of dentin Abnormality of the shape of the midface Rootless teeth Blepharochalasis Lagopthalmos Dentinogenesis imperfecta limited to primary teeth Penoscrotal hypospadias Absent external genitalia Upper limb peromelia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Multiple impacted teeth Thoracolumbar kyphoscoliosis Cutaneous syndactyly Narrow forehead Anomalous pulmonary venous return Occipital meningocele Syndactyly Abnormality of the dentition Downslanted palpebral fissures High palate Cephalocele Bifid ureter Peripapillary atrophy Micropenis Exudative retinal detachment Cerebellar malformation Lymphangioma Band keratopathy Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Posteriorly rotated ears High forehead Wide intermamillary distance Flat face Dental malocclusion Micromelia Delayed eruption of teeth Highly arched eyebrow Downturned corners of mouth Thick eyebrow Thin vermilion border Intellectual disability, moderate Facial asymmetry Synophrys Carious teeth Broad forehead Short philtrum Coloboma Low-set, posteriorly rotated ears Round face Hypoplasia of the olfactory bulb Platyspondyly Portal hypertension Respiratory failure Hypothyroidism Osteopenia Abnormality of the kidney Abnormality of the liver Cirrhosis Renal cyst Sepsis Hepatitis Choanal atresia Cholestasis Hepatic fibrosis Wide anterior fontanel Polycystic kidney dysplasia Congenital glaucoma Pneumonia Congenital hypothyroidism Enlarged kidney Hiatus hernia Esophageal varix Buphthalmos Sagittal craniosynostosis Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Splenic cyst Talipes equinovarus Hypoplasia of the corpus callosum Agenesis of corpus callosum Hyperhidrosis Diabetes mellitus Intrauterine growth retardation Hyperkeratosis Microdontia Arthralgia Arachnodactyly Joint hypermobility Long fingers Exostoses Pierre-Robin sequence Abnormal metacarpal morphology Osteoporosis Failure to thrive Abnormality of cardiovascular system morphology Clinodactyly Prominent forehead Abnormal cardiac septum morphology Hypodontia Congenital diaphragmatic hernia Hypertension Abnormality of the hypothalamus-pituitary axis Low-set ears Retinal vein occlusion Hypoplastic iris stroma Aplasia/Hypoplasia of the iris Rieger anomaly Abnormal anterior chamber morphology Anterior segment developmental abnormality Redundant skin Peters anomaly Ectopia pupillae Hypoplasia of the iris Posterior embryotoxon Aniridia Anal stenosis Upslanted palpebral fissure Sparse hair Hip dislocation Constrictive median neuropathy Limitation of joint mobility Situs inversus totalis Spastic paraparesis Aortic regurgitation Cerebral palsy Sleep apnea Stridor Rhinitis Obstructive sleep apnea Spinal cord compression Dysostosis multiplex Mitral stenosis Broad face Spondylolisthesis Abnormality of peripheral nerve conduction Full cheeks Respiratory distress Conductive hearing impairment Severe short stature Inguinal hernia Depressivity Short nose Kyphosis Gait disturbance Mucopolysacchariduria Flexion contracture Pain Tricuspid atresia Cervical cord compression Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Syncope Genu valgum Short palpebral fissure Broad columella Depressed nasal ridge Large fontanelles Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Hypopituitarism Median cleft lip Coronal craniosynostosis Abnormal toenail morphology Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Alopecia totalis Bifid nose Patellar hypoplasia Corneal opacity Dermoid cyst Apnea Coarse facial features Pes cavus Abnormality of the glabella Midline central nervous system lipomas Aplasia/Hypoplasia of the tibia Choroid plexus cyst Thick nasal alae Decreased lacrimation Retrocerebellar cyst Median cleft palate Large sella turcica Parietal foramina Anterior pituitary hypoplasia Amelia involving the lower limbs



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