Abnormal facial shape, and Abnormality of the skin

Diseases related with Abnormal facial shape and Abnormality of the skin

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of the skin 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 MENTAL RETARDATION, X-LINKED 100; MRX100


Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Poor speech
  • Generalized-onset seizure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 100; MRX100

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Other less relevant matches:

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

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

Low match DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Rod-cone dystrophy
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37

Low match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14


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-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Hyperhidrosis
  • Hypotrichosis
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Low match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low 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

Low match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the skin

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Renal agenesis Rare - less than 30% cases
Thick vermilion border Rare - less than 30% cases
Downslanted palpebral fissures Rare - less than 30% cases
Seizures Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Delayed speech and language development Hearing impairment Ectodermal dysplasia Renal dysplasia Hypodontia Poor speech Global developmental delay Hyperhidrosis Abnormality of the cerebral white matter Hypohidrosis Long face Synophrys Conical tooth Hypotrichosis of the scalp Oval face Low insertion of columella Intellectual disability, moderate Autism Autistic behavior Language impairment Peripheral demyelination Thin eyebrow Hypertelorism Depressed nasal bridge Wide nasal bridge Macrotia Low anterior hairline Sparse eyelashes Oligodontia Prominent forehead Motor delay Reduced number of teeth Agenesis of permanent teeth Wide nose Morphological abnormality of the vestibule of the inner ear Hypertrichosis Potter facies Cognitive impairment Tremor Dystonia Myoclonus Postaxial hand polydactyly Broad phalanges of the 5th finger Generalized-onset seizure Falls Pulmonary hypoplasia Redundant skin Unilateral renal agenesis Bilateral renal agenesis Renal insufficiency Hypotrichosis Renal hypoplasia Preauricular skin tag Preauricular pit Severe hearing impairment Hemifacial hypoplasia Bilateral renal dysplasia Sensorineural hearing impairment Rod-cone dystrophy Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Vestibular dysfunction Congenital stationary night blindness Broad face



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