Abnormal facial shape, and Downslanted palpebral fissures

Diseases related with Abnormal facial shape and Downslanted palpebral fissures

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Medium match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Medium 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

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Downslanted palpebral fissures

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Downslanted palpebral fissures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Depressed nasal bridge Absent speech Wide nose

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Microphthalmia Short philtrum Retrognathia Malar flattening Aggressive behavior Macrotia Prominent nose Deeply set eye Long face Smooth philtrum Hypotelorism Thick vermilion border Hypodontia Ectodermal dysplasia Epicanthus Intellectual disability, moderate Wide nasal bridge Chorioretinal atrophy Congenital microcephaly Optic nerve hypoplasia Hypoplasia of the corpus callosum Reduced visual acuity Visual impairment Retinal detachment Anxiety Abnormality of the nervous system Nystagmus Chorioretinal dysplasia Focal-onset seizure Thin vermilion border Truncal obesity Everted lower lip vermilion Downturned corners of mouth Generalized tonic-clonic seizures Neonatal hypotonia Cerebral atrophy Intellectual disability, severe Low-set ears Long eyebrows Broad eyebrow Overweight Polyphagia Short chin Highly arched eyebrow Pointed chin Dolichocephaly Obesity Delayed speech and language development Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Generalized-onset seizure Stereotypy Triangular face Delayed ability to walk Thick lower lip vermilion Postnatal microcephaly Oligodontia Coloboma Conductive hearing impairment Cleft palate Micrognathia Hearing impairment Thin eyebrow Agenesis of permanent teeth Reduced number of teeth Sparse eyelashes Facial asymmetry Low anterior hairline Low insertion of columella Oval face Hypotrichosis of the scalp Conical tooth Hypohidrosis Hypertrichosis Hypotrichosis Hyperhidrosis Microtia Choanal atresia Inability to walk High palate EEG abnormality Myoclonus Cerebellar atrophy Strabismus Large hands Prominent supraorbital ridges Narrow mouth Gait ataxia Brachycephaly Ataxia Atresia of the external auditory canal Posterior synechiae of the anterior chamber Large beaked nose Iris atrophy Ectopia lentis Convex nasal ridge Dental malocclusion Visual loss Bilateral conductive hearing impairment Choanal stenosis Tented upper lip vermilion



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