Depressed nasal bridge, and Short philtrum

Diseases related with Depressed nasal bridge and Short philtrum

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


Top matches:

High match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

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Other less relevant matches:

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

High match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

High match COFFIN-SIRIS SYNDROME


Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

COFFIN-SIRIS SYNDROME Is also known as css

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about COFFIN-SIRIS SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Short philtrum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide mouth Strabismus Wide nasal bridge Short stature Hypertelorism Generalized hypotonia Anteverted nares Thick vermilion border Intrauterine growth retardation Ptosis Seizures Highly arched eyebrow Deeply set eye Broad nasal tip Absent speech Feeding difficulties Thick eyebrow Thin upper lip vermilion Growth delay Downslanted palpebral fissures Hypoplasia of the corpus callosum Nystagmus Short distal phalanx of finger Depressed nasal ridge Hearing impairment Long eyelashes Wide nose Cryptorchidism Short nose Epicanthus Downturned corners of mouth Intellectual disability, severe Failure to thrive Scoliosis

Rare Symptoms - Less than 30% cases


Cleft palate Small nail Short palpebral fissure Open mouth Thick lower lip vermilion Lacrimation abnormality Long nose Long philtrum Hypoplastic fifth toenail Atrial septal defect Protruding ear Coarse facial features Dandy-Walker malformation Partial agenesis of the corpus callosum Delayed speech and language development Micrognathia Abnormality of cardiovascular system morphology Everted lower lip vermilion Synophrys Widely spaced teeth Patent ductus arteriosus Motor delay Hyperactivity Clinodactyly Sparse hair Thin vermilion border Broad forehead Small for gestational age Coarctation of aorta Hydronephrosis Triangular face Poor speech Anxiety Malar flattening Prominent forehead Ventricular septal defect Intellectual disability, mild Long upper lip Congestive heart failure Wide intermamillary distance Myopia Prominent nasal tip Absence seizures Prominent metopic ridge Microretrognathia Situs inversus totalis Hydrops fetalis Bruxism Round face Abnormality of the clitoris Neurological speech impairment Bifid uvula Dystonia Increased serum bile acid concentration Abnormality of glutamine metabolism Functional respiratory abnormality Micronodular cirrhosis Spasticity Biventricular hypertrophy Premature skin wrinkling Dextrocardia Agenesis of corpus callosum Cutis laxa Clitoral hypertrophy Telecanthus Patent foramen ovale Poor suck Muscular hypotonia of the trunk Abnormality of the pinna Deep philtrum Smooth philtrum Infra-orbital crease Parasomnia Syndactyly Renal hypoplasia/aplasia Kyphosis Hernia Recurrent respiratory infections Feeding difficulties in infancy Joint hyperflexibility Congenital diaphragmatic hernia Bilateral single transverse palmar creases Generalized hirsutism Coxa valga Spina bifida occulta Elbow dislocation Ventriculomegaly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Ectopic kidney Abnormality of the hip bone Abnormality of the clavicle Slow-growing hair Aplasia/Hypoplasia of the patella Abnormality of the intervertebral disk Hypoplastic fifth fingernail Aplasia/Hypoplasia of the distal phalanx of the 5th toe Abnormality of the dentition Cataract Clinodactyly of the 5th finger Hand polydactyly Polydactyly High forehead Craniosynostosis Toe syndactyly Sleep disturbance Hypodontia Premature birth Finger clinodactyly Bicuspid aortic valve Coarse hair Supernumerary nipple Muscular hypotonia Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Mesoaxial hand polydactyly No permanent dentition Wide anterior fontanel Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Decreased liver function Redundant skin Hepatic fibrosis Arachnodactyly Short chin Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the nares Abnormality of the columella Recurrent infections Abnormal heart morphology Cerebellar hypoplasia Sparse scalp hair Growth hormone deficiency Low anterior hairline Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Abnormal corpus callosum morphology Thick nasal alae Sensorineural hearing impairment High palate Hypertrichosis Underdeveloped nasal alae Macrocephaly Narrow palpebral fissure Severe short stature Broad-based gait Decreased body weight Pain Neonatal hypotonia Blepharophimosis Hypermetropia Astigmatism Fine hair Language impairment Full cheeks Long fingers Long palpebral fissure Self-mutilation Fair hair Tics Long toe Inappropriate laughter Midface retrusion Posteriorly rotated ears Visual impairment Constipation Telangiectasia Hepatomegaly Abnormal hair pattern Periorbital fullness Abnormality of the upper urinary tract Dimple chin Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Anemia Edema Absent eyelashes Splenomegaly Thrombocytopenia Hepatosplenomegaly Abnormality of the kidney Cirrhosis Abnormal bleeding Asthma Oligohydramnios Pancytopenia Sparse lateral eyebrow Abnormal eyelash morphology Autism Hypertension Developmental regression Autistic behavior Pectus carinatum Prominent nasal bridge Delayed myelination Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Frontal bossing Aplasia cutis congenita Upslanted palpebral fissure Scarring Anal atresia Bulbous nose Horizontal nystagmus Hypopigmented skin patches Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia/Hypoplasia of the distal phalanx of the 5th finger



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