Abnormal facial shape, and Depressed nasal bridge

Diseases related with Abnormal facial shape and Depressed nasal bridge

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


Top matches:

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4


Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Medium match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Medium match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

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Other less relevant matches:

Medium match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Medium match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Medium match DISTAL MONOSOMY 1Q


1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Depressed nasal bridge

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Generalized hypotonia Immunodeficiency Downslanted palpebral fissures Absent speech Low-set ears

Rare Symptoms - Less than 30% cases


Short nose Growth delay High palate Motor delay Downturned corners of mouth Thin vermilion border Smooth philtrum Frontal bossing Macrocephaly Round face Aggressive behavior Prominent forehead Microcephaly Recurrent infections Everted lower lip vermilion Short stature Recurrent respiratory infections Respiratory tract infection Decreased antibody level in blood Wide nose Agammaglobulinemia Obsessive-compulsive behavior Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Focal-onset seizure Nephrocalcinosis Generalized-onset seizure Thin upper lip vermilion Triangular face Highly arched eyebrow Diaphyseal thickening Diaphyseal sclerosis Diaphyseal dysplasia Facial hyperostosis Anxiety Intellectual disability, moderate Upslanted palpebral fissure Micrognathia Intellectual disability, severe Short chin Retrognathia Pneumonia Anteverted nares Tented upper lip vermilion Generalized tonic-clonic seizures Neonatal hypotonia Deeply set eye Cerebral atrophy Sandal gap Aplasia/Hypoplasia of the corpus callosum Narrow palpebral fissure Pointed chin Wide mouth Hyperactivity Stenosis of the external auditory canal Clinodactyly Obesity Long philtrum Delayed speech and language development Strabismus Craniofacial hyperostosis Intractable diarrhea Flared metaphysis Intellectual disability, mild Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Tall stature Cerebellar vermis hypoplasia Apraxia Abnormal cerebellum morphology Postaxial polydactyly Polymicrogyria Polydactyly Dysarthria Failure to thrive Nystagmus Ataxia Thin eyebrow Agenesis of permanent teeth Reduced number of teeth Oligodontia Sparse eyelashes Low anterior hairline Ectodermal dysplasia Hypodontia Thick vermilion border Elongated superior cerebellar peduncle Anemia Hyperostosis Villous atrophy Abnormality of the ribs Conductive hearing impairment Coarse facial features Optic atrophy Decreased serum iron Uncombable hair Pili canaliculi Chronic hepatitis Bloody diarrhea Hypochromic microcytic anemia Trichorrhexis nodosa Woolly hair Hepatomegaly Microcytic anemia Colitis Brittle hair Chronic diarrhea Hepatitis Cirrhosis Small for gestational age Sparse hair Abnormality of the liver Diarrhea Intrauterine growth retardation Chronic bronchitis



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