Depressed nasal bridge, and Astigmatism

Diseases related with Depressed nasal bridge and Astigmatism

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


Top matches:

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

High match HOLOPROSENCEPHALY 3; HPE3


HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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Other less relevant matches:

High match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

High match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES 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 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

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Thin upper lip vermilion

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Hyperactivity Anteverted nares Hypermetropia Midface retrusion Broad nasal tip Long philtrum Short stature Coloboma Microphthalmia Hearing impairment Ptosis Growth delay Hypertelorism Hypoplasia of the corpus callosum Deeply set eye Myopia Posteriorly rotated ears Feeding difficulties Micrognathia Cryptorchidism Low-set ears Sensorineural hearing impairment Downturned corners of mouth Abnormality of the skeletal system Intellectual disability, severe Microcornea Epicanthus Brachydactyly Prominent forehead Delayed speech and language development Short neck Broad forehead Upslanted palpebral fissure Delayed myelination Brachycephaly High palate Synophrys

Rare Symptoms - Less than 30% cases


Constipation Behavioral abnormality Attention deficit hyperactivity disorder Aggressive behavior Muscular hypotonia Sleep disturbance Blindness Short palm Corneal opacity Severe short stature Failure to thrive Pointed chin Bilateral sensorineural hearing impairment Mandibular prognathia Abnormality of cardiovascular system morphology Optic atrophy Full cheeks Underdeveloped supraorbital ridges Short palpebral fissure Short foot Thin vermilion border Frontal bossing Lymphedema Autism Hypospadias Intrauterine growth retardation Agitation Exotropia Short philtrum Macrocephaly Neonatal hypotonia Proboscis Cyclopia Single median maxillary incisor Blepharophimosis Short nose Macrotia Downslanted palpebral fissures Malar flattening Poor speech Deep philtrum Holoprosencephaly Hypotelorism Abnormality of nervous system morphology Exudative vitreoretinopathy Lower limb asymmetry Eyelid coloboma Epispadias Epibulbar dermoid Bladder exstrophy Fibroma Arachnoid cyst Abnormality of the penis Parietal bossing Abnormality of the bladder Epidermal nevus Laryngeal hypoplasia Exstrophy Abnormal conjunctiva morphology Gastrointestinal atresia Anisometropia Retinal thinning Transient ischemic attack Skin ulcer Abnormality of the ureter Coarctation of aorta Neoplasm Melanonychia Alopecia Agenesis of corpus callosum Proptosis Polyhydramnios Telecanthus Stroke Facial asymmetry Nevus Abnormality of the cardiovascular system Aganglionic megacolon Chorioretinal dysplasia Hyperpigmentation of the skin Myopic astigmatism Opacification of the corneal stroma Abnormality of the ear Multiple lipomas Aplasia/Hypoplasia of the skin Absent septum pellucidum Nystagmus Hamartoma Generalized hyperpigmentation Aplasia cutis congenita Ossifying fibroma Edema Cataract Thick lower lip vermilion Specific learning disability Gangrene Overgrowth Abnormal eyelash morphology Pigmentary retinopathy Sloping forehead Congenital hypoparathyroidism Cellulitis Chorioretinal atrophy Status epilepticus Subcutaneous nodule Retinal detachment Cortical gyral simplification Thickened skin Amblyopia Abnormality of retinal pigmentation Flat occiput Anophthalmia Scaling skin Patent foramen ovale Bilateral ptosis Optic nerve hypoplasia Venous thrombosis Lymphoma Thick vermilion border Panniculitis Reduced visual acuity Spasticity Erysipelas Abnormal nasolacrimal system morphology Atrial septal defect Muscle stiffness Hypertonia Prominent nasal tip Intellectual disability, mild Visual loss Glaucoma Congenital microcephaly Retinal fold Retinal dystrophy Chylothorax Leukonychia Rigidity Protruding ear Retinopathy Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Leukemia Dry skin Wide nose Patchy osteosclerosis Cerebral visual impairment Hypocalcemic seizures Scoliosis Scaphocephaly Small posterior fossa Exencephaly Coarse facial features Anxiety Abnormality of the pinna Bulbous nose Thick eyebrow Hirsutism Inverted nipples Kyphosis Abnormality of digit Hyperlordosis Smooth philtrum Dental crowding Low anterior hairline Drooling Obsessive-compulsive behavior Slender finger Impaired mastication Obesity Retrognathia Severe global developmental delay Facial cleft Absent thumb Laryngomalacia Fair hair Pain Motor delay Wide mouth Sparse hair Fine hair Narrow palpebral fissure Language impairment Long fingers Long palpebral fissure Self-mutilation Tics Trigonocephaly Long toe Inappropriate laughter Dilatation Hydronephrosis Hypoplasia of the fovea Abnormality of the nose Abdominal situs ambiguus Cleft palate Hydrocephalus Oral cleft Narrow forehead Short metacarpal Short metatarsal Cellular immunodeficiency Hypoplasia of penis Micropenis High forehead Muscular hypotonia of the trunk Low-set, posteriorly rotated ears Postnatal growth retardation Small for gestational age Small hand Bifid uvula Growth hormone deficiency Convex nasal ridge Hypocalcemia Recurrent respiratory infections Recurrent bacterial infections Abnormality of dental enamel Intestinal obstruction Spinal canal stenosis External ear malformation Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Hypogonadism Delayed skeletal maturation Delayed ability to walk Focal-onset seizure Pseudohypoparathyroidism Infra-orbital crease Frontal hirsutism Cerebral atrophy Hernia Rod-cone dystrophy Narrow mouth Gastroesophageal reflux Joint laxity Iris coloboma Congenital diaphragmatic hernia Abnormality of the dentition Open mouth Abnormality of the outer ear Cone/cone-rod dystrophy Abnormal electroretinogram Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hypoglycemic seizures Ventriculomegaly Myopathy Chorioretinal lacunae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthralgia, related diseases and genetic alterations Hepatomegaly and Blindness, related diseases and genetic alterations Lymphoma and Sensory neuropathy, related diseases and genetic alterations

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