Abnormal facial shape, and Facial asymmetry

Diseases related with Abnormal facial shape and Facial asymmetry

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match BRANCHIOOTORENAL SYNDROME 2; BOR2


Related symptoms:

  • Hearing impairment
  • Renal insufficiency
  • Renal agenesis
  • Renal hypoplasia
  • Renal dysplasia


SOURCES: OMIM MENDELIAN

More info about BRANCHIOOTORENAL SYNDROME 2; BOR2

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Other less relevant matches:

Low match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD


OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Delayed speech and language development


SOURCES: MESH OMIM MENDELIAN

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Low match TREACHER COLLINS SYNDROME 2; TCS2


Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Low match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Conductive hearing impairment Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Facial asymmetry. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Delayed speech and language development Plagiocephaly Midface retrusion Renal insufficiency Hypertelorism Macrotia Joint stiffness Hypertension Symphalangism affecting the phalanges of the hand Cone-shaped epiphysis Bilateral single transverse palmar creases Thick vermilion border Abnormality of the nail Broad thumb Short palm Brachydactyly Abnormality of the kidney Bilateral conductive hearing impairment Choanal stenosis Atresia of the external auditory canal Choanal atresia Microtia Dental crowding Coloboma Incoordination Malar flattening Respiratory failure Stage 5 chronic kidney disease Wide nasal bridge Polycystic kidney dysplasia Motor delay High palate Microcephaly Generalized hypotonia Multiple glomerular cysts Renal cortical cysts Hepatic cysts Elevated serum creatinine Dextrocardia Wide mouth Hematuria Multicystic kidney dysplasia Neurological speech impairment Poor speech Situs inversus totalis Cleft palate Recurrent urinary tract infections Oligohydramnios Renal cyst Nephropathy Downslanted palpebral fissures Absence seizures Micrognathia Preauricular skin tag Visual field defect Abnormality of eye movement Frontal bossing Macrocephaly Strabismus Bilateral renal dysplasia Hemifacial hypoplasia Severe hearing impairment Preauricular pit Renal dysplasia High forehead Renal hypoplasia Renal agenesis Broad phalanges of the 5th finger Postaxial hand polydactyly Hyperhidrosis Myoclonus Dystonia Tremor Cognitive impairment Hypothyroidism Cleft lip Anterior plagiocephaly Autistic behavior Overweight Poor eye contact Polyphagia Stereotypy Status epilepticus Generalized-onset seizure Delayed myelination Unsteady gait Severe global developmental delay Obesity Anal atresia Hypoplasia of the corpus callosum Ventriculomegaly Growth delay Euryblepharon Ectropion of lower eyelids Distichiasis Conical tooth Ectropion Reduced number of teeth Flat face Delayed ability to walk



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