Neoplasm, and Thick eyebrow

Diseases related with Neoplasm and Thick eyebrow

In the following list you will find some of the most common rare diseases related to Neoplasm and Thick eyebrow that can help you solving undiagnosed cases.


Top matches:

Low match TRICHOMEGALY; TCMGLY


TRICHOMEGALY; TCMGLY Is also known as eyelashes, long

Related symptoms:

  • Cataract
  • Thick eyebrow
  • Hypertrichosis
  • Long eyelashes
  • Spherocytosis


SOURCES: OMIM MENDELIAN

More info about TRICHOMEGALY; TCMGLY

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45


Related symptoms:

  • Intellectual disability
  • Seizures
  • Wide nasal bridge
  • Coarse facial features
  • Deeply set eye


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

Low match MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4


Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Low 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

Low 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

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY


Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Neoplasm and Thick eyebrow

Symptoms // Phenotype % cases
Synophrys Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Thick vermilion border Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neoplasm and Thick eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertrichosis Long eyelashes Wide nasal bridge Coarse facial features Microcephaly

Rare Symptoms - Less than 30% cases


Depressed nasal ridge Macrotia Aggressive behavior Poor speech Hirsutism Gingival overgrowth Generalized hypotonia Short stature Delayed speech and language development Abnormal facial shape Intellectual disability, moderate Ataxia Cerebellar vermis hypoplasia Absent speech Low anterior hairline Deep philtrum Hearing impairment Agenesis of corpus callosum Tremor Joint hypermobility Telecanthus Abnormality of the pinna Short philtrum Prominent nasal bridge Small nail Underdeveloped nasal alae Abnormality of the cerebral white matter Macroglossia Anonychia Upslanted palpebral fissure Short neck Sensorineural hearing impairment Broad nasal tip Epileptic encephalopathy Periorbital fullness Hypoplasia of the pons Narrow forehead Hypsarrhythmia Cerebral visual impairment Kyphosis Cerebellar atrophy Widow's peak Apraxia Monotonic speech Thoracic hemivertebrae Nonprogressive cerebellar ataxia Mild microcephaly Slurred speech Infantile muscular hypotonia Oculomotor apraxia Hemivertebrae Horizontal nystagmus Truncal ataxia Frequent falls Clumsiness Intention tremor Abnormal cerebellum morphology Bifid nasal tip Falls Unsteady gait Dysmetria Abnormality of movement Gait ataxia Cerebellar hypoplasia Babinski sign Dystonia Hypoplasia of the corpus callosum Dysarthria Hyperreflexia Prominent nasal septum Broad eyebrow Blindness Cataract Anteverted nares Long philtrum Kinetic tremor Hand tremor Self-mutilation Narrow palpebral fissure Narrow palate Waddling gait Small hand High, narrow palate Inability to walk Blepharophimosis Mandibular prognathia Intellectual disability, severe Micrognathia Polysplenia Holoprosencephaly Hypotelorism Growth hormone deficiency Oral cleft Cleft lip Proptosis Cleft palate Prominent supraorbital ridges Deeply set eye Spherocytosis Hypertelorism Ventriculomegaly Visual impairment Delayed eruption of teeth Congenital, generalized hypertrichosis Thoracic kyphoscoliosis Generalized hypertrichosis Thick nasal alae Wide nasal base Gingival fibromatosis Peritonitis Relative macrocephaly Widely spaced teeth Generalized hirsutism Overgrowth Bulbous nose Sloping forehead Wide mouth EEG abnormality Kyphoscoliosis Abnormality of the dentition Downslanted palpebral fissures Macrocephaly Epicanthus Cognitive impairment Bimanual synkinesia Cortical gyral simplification Impulsivity Abnormality of the distal phalanx of the thumb



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Prominent nasal bridge, related diseases and genetic alterations Intrauterine growth retardation and Hypopigmentation of the skin, related diseases and genetic alterations Motor delay and Muscular hypotonia of the trunk, related diseases and genetic alterations Delayed speech and language development and Hypertrichosis, related diseases and genetic alterations Cryptorchidism and Intellectual disability, profound, related diseases and genetic alterations Muscle weakness and Fatigue, related diseases and genetic alterations Cryptorchidism and Acidosis, related diseases and genetic alterations

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