Depressed nasal bridge, and Thick eyebrow

Diseases related with Depressed nasal bridge and Thick eyebrow

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


Top matches:

High match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

High match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

High match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Mendelian

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

Learn more

Other less relevant matches:

High match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

High match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

High match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

High match NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA


NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

High match CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME


CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

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 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Thick eyebrow

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Anteverted nares Coarse facial features Wide mouth Prominent forehead Microcephaly Wide nose Sparse scalp hair Intrauterine growth retardation Long eyelashes Hirsutism Abnormal heart morphology Delayed skeletal maturation Dandy-Walker malformation Abnormal corpus callosum morphology Visual impairment Abnormal facial shape Scoliosis Absent speech Abnormality of the skeletal system High palate Thin upper lip vermilion Strabismus Constipation

Rare Symptoms - Less than 30% cases


Hip dislocation Hyperactivity Deeply set eye Macrocephaly Peripheral neuropathy Midface retrusion Downturned corners of mouth Ptosis Nystagmus Sensorineural hearing impairment Hypoplasia of the corpus callosum Osteopenia Cerebellar hypoplasia Delayed speech and language development Hypertelorism Thick lower lip vermilion Bulbous nose Posteriorly rotated ears Hyporeflexia Long philtrum Motor delay Macroglossia Abnormality of cardiovascular system morphology Brachycephaly Hypertrichosis Thick nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Autism Epicanthus Abnormality of the pinna Autistic behavior Short neck Highly arched eyebrow Cerebral visual impairment Flexion contracture High, narrow palate Skeletal dysplasia Sparse eyebrow Cataract Congenital cataract Genu valgum Narrow mouth Broad columella Happy demeanor Esotropia Gastroesophageal reflux Unsteady gait Nasogastric tube feeding Delayed ability to walk Self-injurious behavior Everted lower lip vermilion Open mouth Sensory neuropathy Broad-based gait Stereotypy Progressive microcephaly Widely spaced teeth Prominent supraorbital ridges Progressive spasticity Tics Distal sensory impairment Hip dysplasia Dyskinesia Cerebral atrophy Periarticular subcutaneous nodules Myopia Behavioral abnormality Aggressive behavior Attention deficit hyperactivity disorder Broad forehead Synophrys Multiple skeletal anomalies Astigmatism Sleep disturbance Full cheeks Agitation Inverted nipples Ventriculomegaly Cervical spinal canal stenosis Thoracic kyphoscoliosis Sensory impairment Congenital hip dislocation Growth hormone deficiency Dystonia Bilateral sensorineural hearing impairment Abnormality of the cerebral white matter Telecanthus Sensorimotor neuropathy EEG abnormality Prelingual sensorineural hearing impairment Macrotia Encephalopathy Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Anxiety Brachydactyly Cerebral cortical atrophy Decreased testicular size Pes planus Hyperlordosis Small for gestational age Dolichocephaly Joint hypermobility Triangular face Short ribs Severe short stature Pointed chin Coxa vara Scapular winging Spina bifida occulta Short thorax Slender long bone Mandibular prognathia Clinodactyly of the 5th finger Hypoplastic pelvis Bifid uvula Cleft palate Low-set ears Anemia Intellectual disability, mild Conductive hearing impairment Single transverse palmar crease Brittle hair Pectus excavatum Flat occiput Increased number of teeth Bilateral conductive hearing impairment Muscular hypotonia Frontal bossing Malar flattening Hypospadias Short 5th finger Increased vertebral height Short nose Arnold-Chiari malformation Abnormal cardiac septum morphology Neurological speech impairment Hypermetropia Otitis media Microdontia Recurrent otitis media Trigonocephaly Feeding difficulties in infancy Broad philtrum Sagittal craniosynostosis Small pituitary gland Failure to thrive Pain Spasticity Hypertonia Craniosynostosis Clinodactyly Sparse hair Arachnodactyly Thick vermilion border Delayed eruption of permanent teeth Lacrimal duct aplasia Atrial septal defect Recurrent infections Short philtrum Short distal phalanx of finger Downslanted palpebral fissures Small nail Low anterior hairline Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Wide nasal bridge Recurrent hand flapping



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Attention deficit hyperactivity disorder, related diseases and genetic alterations Delayed speech and language development and Dental malocclusion, related diseases and genetic alterations Brachydactyly and Palmoplantar keratoderma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more