Depressed nasal bridge, and Anteverted nares

Diseases related with Depressed nasal bridge and Anteverted nares

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

High match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

High 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

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Other less relevant matches:

High match PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

High match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

High match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

High match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

High match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

High match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Anteverted nares

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Broad nasal tip Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Motor delay Deeply set eye

Rare Symptoms - Less than 30% cases


Immunodeficiency Sparse hair Low-set ears Lactic acidosis Growth delay Cardiomyopathy Elevated hepatic transaminase Hepatomegaly Thin upper lip vermilion Failure to thrive Wide anterior fontanel Wide mouth Bulbous nose Upslanted palpebral fissure Scarring Midface retrusion Ptosis Thin vermilion border High forehead Short stature Hypertonia Micrognathia Absent lower eyelashes Aged leonine appearance Microcephaly Feeding difficulties Dilated cardiomyopathy Hypertrophic cardiomyopathy Cataract Acidosis Multiple rows of eyelashes Bifid uvula Dermal atrophy Distichiasis Thick vermilion border Fair hair Tics Long toe Inappropriate laughter Pectus carinatum Anal atresia Single transverse palmar crease Periorbital fullness Ectodermal dysplasia Short palpebral fissure Low anterior hairline Conjunctivitis Abnormality of the sternum Aplasia cutis congenita Absent eyelashes Facial asymmetry Muscle weakness Gliosis Telecanthus Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Ataxia Visual impairment Blindness Rod-cone dystrophy Hydronephrosis Nyctalopia Neurodevelopmental delay Highly arched eyebrow Progressive visual loss Apraxia Cerebellar vermis hypoplasia Recurrent urinary tract infections Multicystic kidney dysplasia Oculomotor apraxia Cone/cone-rod dystrophy Abnormality of lipid metabolism Hyperlipidemia Increased serum lactate Hepatosplenomegaly Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Long palpebral fissure Muscular hypotonia Myopathy Intellectual disability, mild Elevated serum creatine phosphokinase Hypoglycemia Exercise intolerance Peripheral axonal neuropathy Distal amyotrophy Full cheeks Cardiomegaly Ventricular hypertrophy Hypertriglyceridemia Left ventricular hypertrophy Hepatic fibrosis Self-mutilation Short philtrum Long fingers Round face Short nose Recurrent infections Pneumonia Recurrent respiratory infections Retrognathia Respiratory tract infection Everted lower lip vermilion Decreased antibody level in blood Long philtrum Short chin Agammaglobulinemia Chronic bronchitis Cryptorchidism Alopecia Brachycephaly Encephalocele Epicanthus High palate Narrow palate Small for gestational age Submucous cleft hard palate Abnormally large globe Intrauterine growth retardation Macrocephaly Frontal bossing Posteriorly rotated ears Abnormality of the kidney Pes planus Syndactyly Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Broad thumb Sparse eyebrow Language impairment Neonatal hypotonia Strabismus Pain Wide nasal bridge Downslanted palpebral fissures Intellectual disability, severe Hyperactivity Cleft palate Blepharophimosis Severe failure to thrive Flat occiput Broad forehead Hypermetropia Poor speech Astigmatism Fine hair Narrow palpebral fissure Large face Multiple renal cysts Bilateral cryptorchidism Cognitive impairment Depressed nasal tip Broad columella Diastema Aplasia cutis congenita of scalp Parietal foramina Wide nasal ridge Symmetrical, oval parietal bone defects Apnea CNS hypomyelination Polymicrogyria Renal cyst Triangular face Large fontanelles Decreased liver function Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Molar tooth sign on MRI



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