Depressed nasal bridge, and Retinal detachment

Diseases related with Depressed nasal bridge and Retinal detachment

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Retinal detachment 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 DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

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Other less relevant matches:

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 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

High 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 SYNDROME

High match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

High match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

High match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Retinal detachment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Midface retrusion

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Generalized hypotonia Vitreoretinopathy Global developmental delay Hypertelorism Malar flattening Anteverted nares Sensorineural hearing impairment Short nose Intellectual disability Short stature Long philtrum Epicanthus Cleft palate Seizures High myopia Osteoarthritis Congenital cataract Nystagmus Proptosis Ectopia lentis Muscular hypotonia of the trunk Ptosis Chorioretinal atrophy Macular hypoplasia Aplasia cutis congenita Lens luxation Bulbous nose Polymicrogyria Visual loss Blindness Abnormal facial shape Flexion contracture Arthralgia Agenesis of corpus callosum Retinopathy Platyspondyly Hypoplasia of the corpus callosum Hypertonia Microcephaly Microphthalmia Amblyopia Depressivity Glossoptosis Kyphosis Pierre-Robin sequence Abnormal vitreous humor morphology Low-set ears Macrocephaly Abnormality of the skeletal system Visual impairment

Rare Symptoms - Less than 30% cases


Coronal cleft vertebrae Enlarged joints Hypoplastic ilia Abnormality of the metaphysis Recurrent otitis media Micromelia Ataxia Rhizomelia Flared metaphysis Microcornea Ventriculomegaly Attention deficit hyperactivity disorder Optic atrophy Protruding ear Lymphedema Thick lower lip vermilion Retinal fold Wide nasal bridge High palate Hyperactivity Reduced visual acuity Macrotia Rigidity Otitis media Hydrocephalus Hyperlordosis Aplasia cutis congenita of scalp Meningocele Occipital encephalocele Optic nerve hypoplasia Bilateral ptosis Anophthalmia Encephalocele Leukemia Alopecia Cerebral atrophy Joint stiffness Spasticity Conductive hearing impairment Progressive visual loss Posteriorly rotated ears Spondyloepiphyseal dysplasia Ventricular septal defect Prominent forehead Scoliosis Broad nasal tip Frontal bossing Retinal dystrophy Downslanted palpebral fissures Umbilical hernia Pain Arthropathy Motor delay Wide anterior fontanel Hypoplasia of the iris Bifid uvula Coloboma Arachnodactyly Epiphyseal dysplasia Severe short stature Retrognathia Prominent supraorbital ridges Intellectual disability, severe Upslanted palpebral fissure Edema Atrial septal defect Mandibular prognathia Intellectual disability, mild Corneal opacity Central hypothyroidism Thin upper lip vermilion Neonatal hypotonia Aggressive behavior Hypermetropia Astigmatism Dry skin Wide nose Thick vermilion border Sleep disturbance Lower limb hypertonia Abnormal glucose tolerance Full cheeks Lymphoma Specific learning disability Muscular hypotonia Cutis marmorata telangiectatica congenita Retinal vascular tortuosity Cerebellar hypoplasia Single transverse palmar crease Short foot Short distal phalanx of finger Aphakia Abnormality of the nervous system Deeply set eye Abnormal heart morphology Wide intermamillary distance Dilatation Syndactyly Lumbar kyphosis Aplasia/Hypoplasia of the macula Hypoplasia of the antihelix Intrauterine growth retardation Gliosis Oligohydramnios Retinal nonattachment Corpus callosum atrophy Adactyly Pigmentary retinopathy High-pitched cry Retrocerebellar cyst Vascular tortuosity Periventricular leukomalacia Short finger Small nail Cutis marmorata Dermal atrophy Cerebral palsy Central adrenal insufficiency Narrow palpebral fissure Low anterior hairline Blue sclerae Overgrowth Abnormality of retinal pigmentation Sloping forehead Brachydactyly Chorioretinal dysplasia Renal dysplasia Dental crowding Exotropia Exudative vitreoretinopathy Type I diabetes mellitus Panniculitis Melanonychia Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Narrow palate Opacification of the corneal stroma Myopic astigmatism Chorioretinal lacunae Nephroblastoma Gait ataxia Intellectual disability, moderate High forehead Falls Hypopigmentation of the skin Hypothyroidism Dandy-Walker malformation Micropenis Recurrent urinary tract infections Choanal atresia Diabetes mellitus Hypogonadism Tremor Cryptorchidism Neoplasm Anosmia Albinism Bilateral sensorineural hearing impairment Pointed chin Scaling skin Patent foramen ovale Deep philtrum Venous thrombosis Peters anomaly Decreased light- and dark-adapted electroretinogram amplitude Ocular pain Flat occiput Muscle stiffness Skin ulcer Smooth philtrum Thickened skin Subcutaneous nodule Status epilepticus Hyposmia Agitation Adrenal insufficiency Retinal dysplasia Hypopituitarism Chylothorax Aniridia Limb hypertonia Leukonychia Hand tremor Abnormal toenail morphology Cortical gyral simplification Hypoplasia of the fovea Gangrene Abnormal eyelash morphology Action tremor Ectopia pupillae Underdeveloped supraorbital ridges Cellulitis Retinal thinning Abnormal joint morphology Delayed speech and language development Tracheomalacia Enlarged thorax Disproportionate short-trunk short stature Hypoplastic pelvis Tracheal stenosis Delayed epiphyseal ossification Bell-shaped thorax Hip contracture Dumbbell-shaped long bone Short thorax Neonatal respiratory distress Coxa vara Joint dislocation Abnormality of epiphysis morphology Round face Rhegmatogenous retinal detachment Lumbar kyphoscoliosis Skeletal dysplasia Vesicoureteral reflux Macular degeneration Horizontal nystagmus Narrow face Abnormality of the hair Pachygyria Thin skin Retinal degeneration Splayed epiphyses Joint hyperflexibility Nyctalopia Mental deterioration Patent ductus arteriosus Cerebellar atrophy Abnormal cartilage collagen Flattened, squared-off epiphyses of tubular bones Hip dislocation Inguinal hernia Pyloric stenosis Proteinuria Congenital diaphragmatic hernia Intestinal malrotation Iris coloboma Pulmonary hypoplasia Broad forehead Telecanthus Hernia Heterotopia Abnormal metacarpal morphology Exostoses Long fingers Mitral valve prolapse Joint hypermobility Pectus carinatum Pectus excavatum Omphalocele Abnormal vertebral morphology Respiratory distress Proximal tubulopathy Short neck Gait disturbance Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Diaphragmatic eventration Short sternum Aminoaciduria Bicornuate uterus Abnormality of the uterus Widow's peak Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Long nose Aplasia/Hypoplasia of the corpus callosum Corneal dystrophy Dextrocardia Growth delay Ectodermal dysplasia Coxa valga Sparse and thin eyebrow Hypohidrosis Sparse scalp hair Cerebral calcification Esotropia Hypoplasia of the maxilla Sparse eyebrow Flat face Genu valgum Hypotrichosis Sparse hair Brachycephaly Hyperhidrosis Abnormality of the dentition Sparse eyelashes Thickened calvaria Large tarsal bones Macrodontia of permanent maxillary central incisor Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Calcification of falx cerebri Radial bowing Hypoplastic frontal sinuses Absent frontal sinuses Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Thick upper lip vermilion Hypoplasia of the zygomatic bone Aplasia/Hypoplasia of the capital femoral epiphysis Abnormal lacrimal duct morphology Cortical dysplasia Phthisis bulbi Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Lymphangioma Feeding difficulties in infancy Band keratopathy Total anomalous pulmonary venous return Anomalous pulmonary venous return Large forehead Calvarial skull defect Acute lymphoblastic leukemia Absent septum pellucidum Delayed skeletal maturation Short palm Prominent interphalangeal joints Mixed hearing impairment Enlarged epiphyses Premature osteoarthritis Short 5th metacarpal Beaking of vertebral bodies Synostosis of carpal bones Disproportionate short stature Short long bone Short metacarpal Recurrent pneumonia Short phalanx of finger Abnormal form of the vertebral bodies Depressed nasal ridge Lumbar hyperlordosis Limb undergrowth Abnormality of the skin Increased proinsulin:insulin ratio



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