Depressed nasal bridge, and Corneal opacity

Diseases related with Depressed nasal bridge and Corneal opacity

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


Top matches:

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match ACHONDROGENESIS, TYPE IA; ACG1A


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

Medium 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

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Other less relevant matches:

Medium match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Medium match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Medium match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Medium match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Medium 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

Medium 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

Medium match VAN DEN ENDE-GUPTA SYNDROME


Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Corneal opacity

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Intellectual disability Severe short stature Anteverted nares Growth delay Short nose Lymphedema Dry skin Short stature Coarse facial features Long philtrum Glaucoma Astigmatism Opacification of the corneal stroma Epicanthus Abnormality of the skeletal system Visual impairment Failure to thrive Talipes equinovarus Hernia Sensorineural hearing impairment Thick vermilion border Myopia Edema Muscular hypotonia Visual loss

Rare Symptoms - Less than 30% cases


Leukemia Aortic regurgitation Full cheeks Everted lower lip vermilion Wide nose Wide nasal bridge Retinal degeneration Blindness Wide mouth Mandibular prognathia Cataract Nystagmus Ventriculomegaly Hypoplasia of the corpus callosum Hypoplastic scapulae Microphthalmia Skeletal dysplasia Retinal detachment Stridor Ambiguous genitalia Malar flattening Flexion contracture Low-set ears Hypertelorism Intellectual disability, mild Thin vermilion border Hypoplasia of the maxilla Vitreoretinopathy Underdeveloped nasal alae Hypoplasia of penis Dysostosis multiplex Intellectual disability, severe Chorioretinal atrophy Thin skin Macrotia Mental deterioration Protruding ear Ataxia Cerebral atrophy Mucopolysacchariduria Thin ribs Prominent forehead Camptodactyly Angiokeratoma Subcutaneous nodule Short foot Short palm Aplasia cutis congenita Blepharophimosis Hydrops fetalis Short neck Hyperactivity Absent septum pellucidum Umbilical hernia Polyhydramnios Telangiectasia Frontal bossing Abnormality of cardiovascular system morphology Proptosis Thick lower lip vermilion Short chin Cardiomegaly Bilateral sensorineural hearing impairment Alopecia Thin upper lip vermilion Cleft palate Convex nasal ridge Strabismus Macrocephaly Inguinal hernia Abnormality of the cardiovascular system Ectopia lentis Epispadias Coarctation of aorta Short palpebral fissure Dextrocardia Corneal dystrophy Aganglionic megacolon Hyperpigmentation of the skin Abnormality of the ear Macular degeneration Pyloric stenosis Coloboma Nevus Calvarial skull defect Macular hypoplasia Hypospadias Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Agenesis of corpus callosum Facial asymmetry Meningocele Acute lymphoblastic leukemia Telecanthus Occipital encephalocele Narrow face Stroke Cortical dysplasia Horizontal nystagmus Multiple lipomas Abnormality of the hair Abnormality of the bladder Abnormal conjunctiva morphology Exstrophy Lens luxation Epidermal nevus Glenoid fossa hypoplasia Abnormality of the ureter Long metacarpals Parietal bossing Anisometropia Arachnoid cyst Transient ischemic attack Eyelid coloboma Abnormality of the penis Epibulbar dermoid Fibroma Bladder exstrophy Lower limb asymmetry Gastrointestinal atresia Ossifying fibroma Pachygyria Congenital cataract Encephalocele High myopia Progressive visual loss Vesicoureteral reflux Abnormality of nervous system morphology Bulbous nose Polymicrogyria Joint hyperflexibility Nyctalopia Generalized hyperpigmentation Retrognathia Patent ductus arteriosus Midface retrusion Cerebellar atrophy Aplasia/Hypoplasia of the skin Hydrocephalus Motor delay Hamartoma Laryngeal hypoplasia Lateral clavicle hook Band keratopathy Exudative vitreoretinopathy Craniosynostosis Hydronephrosis Narrow mouth Pectus excavatum Respiratory distress High palate Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Retinal thinning High, narrow palate Panniculitis Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Arachnodactyly Triangular face Abnormal eyelash morphology Hallux valgus Eclabion Choanal stenosis Single umbilical artery Sclerocornea Abnormal eyebrow morphology Narrow nose Dislocated radial head Slender long bone Narrow nasal bridge Femoral bowing Congenital contracture Asthma Laryngomalacia Knee flexion contracture Elbow flexion contracture Cardiac arrest Joint contracture of the hand Long hallux Ulnar bowing Camptodactyly of toe Dental crowding Bowing of the long bones Dandy-Walker malformation Gangrene Underdeveloped supraorbital ridges Lymphangioma Optic atrophy Narrow foot Attention deficit hyperactivity disorder Retinopathy Aggressive behavior Rigidity Reduced visual acuity Upslanted palpebral fissure Hypertonia Atrial septal defect Downslanted palpebral fissures Ptosis Retinal dystrophy Spasticity Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Distal ulnar hypoplasia Phthisis bulbi Hypermetropia Sleep disturbance Cellulitis Pointed chin Cortical gyral simplification Agitation Flat occiput Anophthalmia Scaling skin Patent foramen ovale Bilateral ptosis Deep philtrum Optic nerve hypoplasia Venous thrombosis Muscle stiffness Microcornea Skin ulcer Abnormality of retinal pigmentation Amblyopia Thickened skin Status epilepticus Sloping forehead Pigmentary retinopathy Overgrowth Specific learning disability Lymphoma Broad nasal tip Neonatal hypotonia Myopathy Brachydactyly Hepatomegaly Situs inversus totalis Aortic valve stenosis Limitation of joint mobility Syncope Genu valgum Joint stiffness Apnea Pes cavus Splenomegaly Abnormality of the femoral metaphysis Cerebral palsy Abnormal hand bone ossification Abnormal foot bone ossification Unossified vertebral bodies Beaded ribs Abnormal enchondral ossification Broad clavicles Hypoplastic ischia Femoral hernia Lethal skeletal dysplasia Spastic paraparesis Sleep apnea Disproportionate short-trunk short stature Anemia Progressive neurologic deterioration Ascites Inability to walk Abnormality of the kidney Abnormality of the nervous system Hepatosplenomegaly Arthralgia Myoclonus Thrombocytopenia Tricuspid atresia Rhinitis Cervical cord compression Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Abnormality of peripheral nerve conduction Constrictive median neuropathy Spondylolisthesis Broad face Mitral stenosis Spinal cord compression Obstructive sleep apnea Multiple epiphyseal dysplasia Decreased skull ossification Hemangioma Polyneuropathy Lip telangiectasia Angiokeratoma corporis diffusum Progressive distal muscle weakness Motor polyneuropathy Abnormality of the periventricular white matter Telangiectasia of the skin Axonal degeneration Tinnitus Aminoaciduria Distal sensory impairment Distal sensory impairment of all modalities Vertigo Peripheral axonal neuropathy Abnormality of the cerebral white matter Papule Distal muscle weakness Abnormality of the eye Hyperkeratosis Peripheral neuropathy Cognitive impairment Muscle weakness Increased urinary O-linked sialopeptides White mater abnormalities in the posterior periventricular region Barrel-shaped chest Short thorax Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Upper limb undergrowth Protuberant abdomen Short clavicles Protruding tongue Disproportionate short stature Cystic hygroma Thoracic hypoplasia Epiphyseal dysplasia Telangiectasia of the oral mucosa Growth abnormality Hypoplasia of the radius Short ribs Abnormality of the ribs Limb undergrowth Premature birth Flat face Micromelia Narrow chest Respiratory failure Abnormal vertebral morphology Spondyloepiphyseal dysplasia Feeding difficulties Cryptorchidism Deeply set eye High forehead Micropenis Hypogonadism Posteriorly rotated ears Recurrent respiratory infections Delayed skeletal maturation Abnormality of the dentition Intrauterine growth retardation Long uvula Low-set, posteriorly rotated ears Ventral hernia Absent hair Microtia, third degree Ablepharon Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Excessive wrinkled skin Muscular hypotonia of the trunk Postnatal growth retardation Absent nipple Hypoparathyroidism Neoplasm Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation Small for gestational age External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Recurrent bacterial infections Hypocalcemia Growth hormone deficiency Delayed myelination Bifid uvula Small hand Breast hypoplasia Aplasia/Hypoplasia of the nipples Abnormality of the vertebral column Abnormality of the pinna Dental malocclusion Short metacarpal Ectodermal dysplasia Abnormality of skin pigmentation Toe syndactyly Finger syndactyly Microtia Camptodactyly of finger Sparse hair Syndactyly Interphalangeal joint contracture of finger Delayed speech and language development Decreased beta-galactosidase activity Cherry red spot of the macula Arthralgia of the hip Vacuolated lymphocytes Conjunctival telangiectasia Hemophagocytosis Visceromegaly Foam cells Nonimmune hydrops fetalis Microdontia Fine hair High-frequency hearing impairment Hypoplastic nipples Labial hypoplasia Conical tooth Abnormal hair pattern Corneal erosion Abnormality of finger Hypoplasia of the zygomatic bone Shallow orbits Abnormality of the mouth Absent eyelashes Absent eyebrow Hypertrichosis Ectropion Sparse eyebrow Redundant skin Atresia of the external auditory canal Sacral dimple Abnormality of the outer ear Cutis laxa Cutaneous syndactyly Abnormality of the genital system Omphalocele Slender metacarpals



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