Abnormal facial shape, and Abnormality of the eye

Diseases related with Abnormal facial shape and Abnormality of the eye

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly


SOURCES: OMIM MONDO UMLS

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match MENTAL RETARDATION, X-LINKED 100; MRX100

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • X-linked recessive inheritance
  • Poor speech


SOURCES: OMIM UMLS MONDO

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

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Other less relevant matches:

Low match RUSSELL-SILVER SYNDROME, X-LINKED

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

RUSSELL-SILVER SYNDROME, X-LINKED Is also known as russell-silver-like syndrome with skin pigmentation, partington syndrome;familial cutaneous amyloidosis; pdr; partington disease; x-linked cutaneous amyloidosis; xlpdr

Related symptoms:

  • Intrauterine growth retardation
  • X-linked inheritance
  • Triangular face
  • Cafe-au-lait spot


SOURCES: OMIM ORPHANET

More info about RUSSELL-SILVER SYNDROME, X-LINKED

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:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Abnormality of the genital system


SOURCES: UMLS MONDO OMIM EFO

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low match DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: UMLS MESH DOID MONDO OMIM

More info about DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Obesity
  • Severe global developmental delay


SOURCES: MESH MONDO UMLS OMIM

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

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:

  • Autosomal recessive inheritance
  • Polyhydramnios
  • Pulmonary hypoplasia
  • Renal agenesis
  • Redundant skin


SOURCES: UMLS MONDO OMIM

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1

Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral HeadANFH2 is caused by mutation in the TRPV4 gene (OMIM ) on chromosome 12q24.Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD ), a form of ANFH in growing children.

AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 Is also known as femoral head, avascular necrosis of;anfh, femoral head, aseptic necrosis of, ischemic necrosis of femoral head, osteonecrosis of femoral head

Related symptoms:

  • Autosomal dominant inheritance
  • Abnormal facial shape
  • Pain
  • Osteoporosis
  • Aseptic necrosis


SOURCES: NCIT GARD OMIM MESH MONDO

More info about AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: UMLS MONDO DOID GARD OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Seizures Polyhydramnios Renal agenesis Pulmonary hypoplasia Polyphagia Anterior plagiocephaly Overweight Bilateral renal agenesis Stereotypy Facial asymmetry Severe global developmental delay Redundant skin Pain Potter facies Ureteral agenesis Morphological abnormality of the vestibule of the inner ear Osteoporosis Aseptic necrosis Generalized osteoporosis Avascular necrosis of the capital femoral epiphysis Groin pain Hypertelorism Ptosis Milia Intellectual disability, mild Behavioral abnormality Aggressive behavior Wide mouth Obesity Bilateral sensorineural hearing impairment Congenital stationary night blindness Generalized seizures Cognitive impairment Infantile onset Tremor Dystonia Myoclonus Clonus Pica Hyperhidrosis Postaxial hand polydactyly Broad phalanges of the 5th finger X-linked recessive inheritance Poor speech Intrauterine growth retardation Vestibular dysfunction X-linked inheritance Triangular face Cafe-au-lait spot Abnormality of the genital system Autism Autistic behavior Peripheral demyelination Language impairment Hearing impairment Sensorineural hearing impairment Rod-cone dystrophy Congenital sensorineural hearing impairment Mood swings



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Other signs and symptoms that you may find interesting

Microphthalmia and Round face, related diseases and genetic alterations Microphthalmia and Babinski sign, related diseases and genetic alterations Rod-cone dystrophy and Scarring, related diseases and genetic alterations Dysarthria and Limb-girdle muscular dystrophy, related diseases and genetic alterations Intellectual disability, severe and Attention deficit hyperactivity disorder, related diseases and genetic alterations