Visual impairment, and Underdeveloped nasal alae

Diseases related with Visual impairment and Underdeveloped nasal alae

In the following list you will find some of the most common rare diseases related to Visual impairment and Underdeveloped nasal alae that can help you solving undiagnosed cases.


Top matches:

Low match BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME


Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Low 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

Low match WAARDENBURG-SHAH SYNDROME


Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome|waardenburg-hirschsprung syndrome|ws4|waardenburg syndrome type 4

Related symptoms:

  • Hearing impairment
  • Wide nasal bridge
  • Constipation
  • Abdominal pain
  • Telecanthus


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG-SHAH SYNDROME

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Low match FRASER SYNDROME 1; FRASRS1


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Low match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Low match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Visual impairment and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Wide nasal bridge Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Visual impairment and Underdeveloped nasal alae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cleft palate Finger syndactyly Cleft upper lip Ambiguous genitalia Depressed nasal bridge High palate Cryptorchidism Short nose Short stature Low-set ears Micrognathia Syndactyly Anal atresia Delayed speech and language development Proptosis Atresia of the external auditory canal Thin vermilion border Renal hypoplasia Optic atrophy Cutaneous syndactyly Dental malocclusion Spasticity Ventricular septal defect Cryptophthalmos Growth delay Synophrys Conductive hearing impairment Blindness Abnormality of vision Malar flattening Toe syndactyly Prominent nasal bridge Abnormality of the eye Seizures Generalized hypotonia

Rare Symptoms - Less than 30% cases


Bicornuate uterus Abnormality of cardiovascular system morphology Abnormal hair pattern Calvarial skull defect Myelomeningocele Vaginal atresia External ear malformation Anal stenosis Mandibular prognathia Anophthalmia Hypospadias Umbilical hernia Dental crowding Encephalocele Omphalocele Hypoplasia of penis Subglottic stenosis Pulmonary hypoplasia Wide intermamillary distance Atrial septal defect Laryngeal stenosis Hypertrichosis White eyebrow White eyelashes White forelock Hypopigmentation of hair Premature graying of hair Aganglionic megacolon Telecanthus Absent eyelashes Short philtrum Thick eyebrow Wide nose Short chin Cutaneous finger syndactyly Fine hair Urethral atresia Microdontia Cleft lip Hypoplasia of the maxilla Corneal opacity Sparse hair Abnormality of the pinna Hernia Polydactyly Malformed lacrimal duct Midline nasal groove Lacrimal duct aplasia Wide pubic symphysis Cleft ala nasi Microphthalmia Absent eyebrow Long palpebral fissure Hypertonia Poor head control Long eyelashes Small nail Short metacarpal Thin upper lip vermilion Scoliosis Brachydactyly Flexion contracture Cerebellar atrophy Encephalopathy Brachycephaly Talipes equinovarus Intellectual disability, moderate Frontal bossing Hyperreflexia Abnormal facial shape Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Decreased body weight Progressive microcephaly Macrotia Strabismus Downslanted palpebral fissures Clitoral hypertrophy Cupped ear Cutaneous syndactyly of toes Congenital microcephaly Anteverted ears Narrow naris Aplastic/hypoplastic toenail Clinodactyly of the 5th toe Renal agenesis Enlarged epiphyses Broad columella Renal hypoplasia/aplasia 2-4 toe syndactyly Hydrocephalus Oligohydramnios Abnormality of the urinary system Abnormal heart morphology Micropenis Postaxial polydactyly Frontal hirsutism Thoracic scoliosis Echolalia Generalized hirsutism Broad forehead Small for gestational age Neurological speech impairment Paraplegia Smooth philtrum Bulbous nose Hirsutism Single transverse palmar crease Hypodontia Limitation of joint mobility Specific learning disability Postnatal microcephaly Bilateral single transverse palmar creases Finger clinodactyly High anterior hairline Widely spaced teeth Mutism Short middle phalanx of finger Supernumerary nipple Dysphasia Aphasia Narrow nasal bridge Abnormality of digit Macrocephaly Gonadal dysgenesis Limb dystonia Limb hypertonia Narrow nose Low hanging columella Aplasia/Hypoplasia of the thumb Bilateral microphthalmos Facial cleft Short palpebral fissure Lacrimation abnormality Sensorineural hearing impairment Abnormality of metabolism/homeostasis Inguinal hernia Narrow mouth Feeding difficulties in infancy Protruding ear Blepharophimosis Coloboma Abnormal cardiac septum morphology Bifid uvula Prominent nose Choanal atresia Heterochromia iridis Renal dysplasia Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology 2-3 toe syndactyly Mixed hearing impairment Eyelid coloboma Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma White hair Meningocele Foot polydactyly Morphological abnormality of the middle ear Postaxial foot polydactyly Choanal stenosis Abnormal cortical gyration Gonadoblastoma Postnatal growth retardation Bilateral renal agenesis Abnormality of the anus Upper eyelid coloboma Abnormality of the thymus Abnormality of the nares Difficulty in tongue movements Laryngeal web Aplasia/Hypoplasia of the phalanges of the hand Hypoplastic superior helix Sprengel anomaly Severe T-cell immunodeficiency Abnormality of the small intestine Laryngeal atresia Extension of hair growth on temples to lateral eyebrow Aplasia/Hypoplasia of the sternum Abnormality of the umbilicus Ptosis Feeding difficulties Abnormality of the hair Spina bifida Hypopigmented skin patches Tented upper lip vermilion Congenital sensorineural hearing impairment Short neck Intrauterine growth retardation High forehead Highly arched eyebrow Progressive spasticity Abnormal vagina morphology Cortical gyral simplification Abnormality of the middle ear Female pseudohermaphroditism Delayed gross motor development Sensorimotor neuropathy Esotropia Delayed myelination Brain atrophy Myopia Anteverted nares Abnormality of the cerebral white matter Bifid tongue Camptodactyly Irritability Wide mouth Camptodactyly of finger Microtia Cerebral cortical atrophy Dry skin Abnormality of skin pigmentation Absent speech Ectodermal dysplasia Interphalangeal joint contracture of finger Ventriculomegaly Poor eye contact Ectopic anus Abnormality of the genital system Cerebellar hypoplasia Hypoplasia of the pons Pontocerebellar atrophy Hypoplasia of the brainstem Elbow flexion contracture Hypsarrhythmia Full cheeks High, narrow palate Low-set, posteriorly rotated ears Dyskinesia Downturned corners of mouth Neonatal hypotonia Oral cleft Cerebral atrophy Abnormality of brainstem morphology Long philtrum Edema Epicanthus Multicystic kidney dysplasia Scrotal hypoplasia Ataxia Vertebral segmentation defect Visual fixation instability Abnormality of the cerebral cortex Abnormal lung lobation Delayed fine motor development Tracheal stenosis Thin skin Peripheral neuropathy Rod-cone dystrophy Craniosynostosis Metaphyseal chondrodysplasia Congenital blindness Horseshoe kidney Abnormality of retinal pigmentation Abnormal intestine morphology Intestinal obstruction Renal cyst Short distal phalanx of finger Abnormal eyebrow morphology Abnormality of the nose Retinal degeneration Nyctalopia Abnormal macular morphology Abdominal pain Olfactory lobe agenesis Failure to thrive Muscular hypotonia Progressive encephalopathy Abnormality of the skeletal system Intellectual disability, severe Dystonia Clinodactyly Delayed skeletal maturation Clinodactyly of the 5th finger Severe short stature Prominent forehead Nystagmus Constipation Cutis laxa Labial hypoplasia Abnormality of the outer ear Sacral dimple Redundant skin Sparse eyebrow Ectropion Hypoplastic nipples Abnormality of the mouth Shallow orbits Hypoplasia of the zygomatic bone Abnormality of finger Corneal erosion Conical tooth High-frequency hearing impairment Long uvula Aplasia/Hypoplasia of the nipples Absent nipple Breast hypoplasia Excessive wrinkled skin Overbite Abnormal nasal morphology Short upper lip Abnormality of female external genitalia Ablepharon Microtia, third degree Absent hair Ventral hernia Bilateral choanal atresia/stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Muscular dystrophy, related diseases and genetic alterations Delayed speech and language development and Sleep disturbance, related diseases and genetic alterations Edema and Lower limb muscle weakness, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more