Wide nasal bridge, and Hypertrichosis

Diseases related with Wide nasal bridge and Hypertrichosis

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


Top matches:

High match ISOLATED TRIGONOCEPHALY


Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Related symptoms:

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED TRIGONOCEPHALY

High match WAARDENBURG SYNDROME, TYPE 2A; WS2A


Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (OMIM ) has been mapped to chromosome 1p, WS2C (OMIM ) has been mapped to chromosome 8p23, WS2D (OMIM ) is caused by mutation in the SNAI2 gene (OMIM ) on chromosome 8q11, and WS2E (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 2A; WS2A Is also known as waardenburg syndrome without dystopia canthorum|ws2|waardenburg syndrome, type iia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Telecanthus
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2A; WS2A

High match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

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Other less relevant matches:

High 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

High match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

High match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

High match DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA


Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

High match WAARDENBURG SYNDROME, TYPE 4A; WS4A


Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

High match PIEBALDISM


Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Telecanthus White eyebrow White eyelashes White forelock Underdeveloped nasal alae Aganglionic megacolon Premature graying of hair Hypertelorism Blue irides Heterochromia iridis Congenital sensorineural hearing impairment Hypopigmentation of the skin

Rare Symptoms - Less than 30% cases


Thick vermilion border Muscular hypotonia Ataxia Prominent nasal bridge Hypopigmentation of hair Seizures Hypoplasia of the corpus callosum Abnormality of the pinna Short philtrum Microcephaly Short neck Generalized hypotonia Abnormality of the cerebral white matter Low anterior hairline Long eyelashes Thick eyebrow Piebaldism Hypopigmented skin patches Intestinal obstruction Cleft lip Abnormality of skin pigmentation Albinism Partial albinism Long philtrum Coarse facial features Hypotelorism Intellectual disability, mild Short stature Hypoganglionosis Microtia Poliosis Downslanted palpebral fissures Hypodontia Long face Spotty hypopigmentation Abnormality of calvarial morphology Prominent nose Microdontia Strabismus Abnormality of the cerebellar vermis Micrognathia Horizontal eyebrow Unilateral cleft lip Bruxism Mild microcephaly Overweight Slender finger Truncal obesity Severe muscular hypotonia Progressive microcephaly Postnatal microcephaly Febrile seizures Round face Downturned corners of mouth Cleft upper lip Tall stature Abnormality of the outer ear Pointed chin Developmental regression Unilateral ptosis Neoplasm Spastic paraparesis Leukodystrophy Polyneuropathy Ptosis Nystagmus Anemia Neoplasm of the skin Absent stapes Aplasia of the inner ear Cochlear aplasia Microtia, first degree Widely spaced teeth Profound sensorineural hearing impairment Anteverted ears Conical tooth Abnormal cranial nerve morphology Skin tags Abnormality of the ear Arachnoid cyst Increased number of teeth Macule White hair High hypermetropia Delayed gross motor development Microcolon Smooth philtrum Hirsutism Neonatal hypotonia Adrenal insufficiency Olfactory lobe agenesis Abnormal macular morphology Abnormality of the nose Abnormal eyebrow morphology Abnormality of vision Abnormal intestine morphology Abnormality of retinal pigmentation Abnormality of the eye Abdominal pain Constipation Panhypopituitarism Myelomeningocele Hypopituitarism Spina bifida occulta Anteverted nares Spina bifida Aspiration Growth hormone deficiency Delayed puberty Intellectual disability, moderate Hypothyroidism Severe short stature Epicanthus High palate Hypoplastic iris stroma Trigonocephaly Prominent supraorbital ridges Omphalocele Visual impairment Blindness Brachycephaly Hyperactivity Obesity Intellectual disability, severe Motor delay Delayed speech and language development Growth delay Prominent nasal septum Broad eyebrow Bifid nasal tip Widow's peak Anonychia Deep philtrum Gingival overgrowth Depressed nasal ridge Absent speech Small nail Macroglossia Joint hypermobility Upslanted palpebral fissure Kyphosis Abnormal facial shape Periorbital fullness Hypoplasia of the pons Cerebral visual impairment Hypsarrhythmia Narrow forehead Epileptic encephalopathy Broad nasal tip Poor speech Absent pigmentation of the ventral chest



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