Depressed nasal bridge, and Smooth philtrum

Diseases related with Depressed nasal bridge and Smooth philtrum

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


Top matches:

High 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

High 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

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

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Other less relevant matches:

High match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

High match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

High match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

High match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

High match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

High match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum Ptosis Thin vermilion border Abnormal facial shape Low-set ears Growth delay Hypertelorism Short stature Hearing impairment Brachycephaly Wide nasal bridge Microcephaly Anteverted nares Delayed speech and language development Synophrys Downslanted palpebral fissures Posteriorly rotated ears Downturned corners of mouth Clinodactyly Generalized hypotonia High palate Triangular face

Rare Symptoms - Less than 30% cases


Short nose Midface retrusion Cognitive impairment Brachydactyly Hypoplasia of the corpus callosum Encephalopathy Small hand Myopia Hypospadias Upslanted palpebral fissure Sensorineural hearing impairment Low anterior hairline Cerebral atrophy Postnatal growth retardation Abnormal cardiac septum morphology Poor speech Abnormality of the dentition Strabismus Carcinoma Focal-onset seizure Highly arched eyebrow Absent speech Cryptorchidism Feeding difficulties Narrow mouth Obsessive-compulsive behavior Decreased body weight Bulbous nose Hypoargininemia Mandibular prognathia High forehead Camptodactyly Microtia Respiratory alkalosis Nail dystrophy Feeding difficulties in infancy Congenital cataract Gastroesophageal reflux Oroticaciduria Flat face Tapered finger Paranoia Episodic ammonia intoxication Pulmonic stenosis Thick eyebrow Cutis marmorata Hirsutism Short foot Hypertrichosis Long eyelashes Finger clinodactyly Proximal placement of thumb Thick hair Protein avoidance Limited elbow movement Cataract Hyperglutaminemia Wide nasal base Intellectual disability, mild Prominent nasal bridge Malar flattening Cerebral edema Sparse scalp hair Hepatic failure Polydactyly Mental deterioration Clinodactyly of the 5th finger Stroke Lethargy Confusion Episodic ataxia Postaxial polydactyly Abnormality of cardiovascular system morphology Coma Alkalosis Acute hepatic failure Gliosis Aciduria Hyperammonemia Pancreatitis Abnormal heart morphology Headache Tented upper lip vermilion Shallow orbits Episodic vomiting Thick lower lip vermilion Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Broad philtrum Vomiting Broad eyebrow Craniofacial asymmetry Ataxia Failure to thrive Spasticity Peripheral neuropathy Edema Irritability Drooling Behavioral abnormality High-frequency hearing impairment Paralysis Hypermetropia Esotropia High hypermetropia Facial diplegia Facial paralysis Esophoria Dysphagia Accommodative esotropia Ventriculomegaly Hypertonia Dystonia Cerebellar hypoplasia Cerebral cortical atrophy Macrotia Facial palsy Dysarthria Generalized tonic-clonic seizures Nephrocalcinosis Prominent forehead Round face Aplasia/Hypoplasia of the corpus callosum Anxiety Intellectual disability, moderate Generalized-onset seizure Unilateral renal agenesis Scrotal hypoplasia Hyperparathyroidism Obsessive-compulsive trait Coarse facial features Blepharophimosis Joint hypermobility Prominent nose Cafe-au-lait spot Developmental regression Inability to walk Short neck Short chin High, narrow palate Broad nasal tip Narrow forehead Broad-based gait Pointed chin Hemivertebrae Sacral dimple Telecanthus Severe intrauterine growth retardation Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Cleft palate Abnormality of the pinna Pes planus Chorea Scoliosis Delayed myelination Febrile seizures Epileptic encephalopathy Status epilepticus Hemiparesis Limb hypertonia Abnormality of the skeletal system Intrauterine growth retardation Kyphosis Autism Hyperlordosis Astigmatism Dental crowding Slender finger Impaired mastication Low plasma citrulline



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