Abnormal facial shape, and Abnormality of the pinna

Diseases related with Abnormal facial shape and Abnormality of the pinna

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


Top matches:

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

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Low match MENTAL RETARDATION, X-LINKED 107; MRX107


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Abnormal facial shape
  • Behavioral abnormality
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 107; MRX107

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Other less relevant matches:

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 MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Low match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Low match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low 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

Low match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrotia Common - Between 50% and 80% cases
Long face Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Protruding ear Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Poor speech Strabismus Delayed speech and language development

Rare Symptoms - Less than 30% cases


Pointed chin Hearing impairment Brachycephaly Triangular face Frontal bossing Anteverted nares Prominent supraorbital ridges Malar flattening Downslanted palpebral fissures Thick lower lip vermilion Prominent forehead Autistic behavior Hyperactivity Upslanted palpebral fissure Behavioral abnormality Absent speech Intellectual disability, moderate Small for gestational age Hip dysplasia Tapered finger Prominent nasal bridge Reduced visual acuity Short thorax Epicanthus Optic atrophy Visual impairment Nystagmus Periorbital fullness Macroorchidism Palpebral edema Slender long bone Narrow palpebral fissure Optic disc pallor Visual field defect Cerebral visual impairment Bilateral sensorineural hearing impairment Clinodactyly Midface retrusion Long philtrum Dolichocephaly Short neck Abnormality of the skeletal system Growth delay Large hands Obsessive-compulsive behavior Hypotelorism Short philtrum Deeply set eye Narrow mouth Gait ataxia High palate Ataxia Hyperlordosis Short stature Neonatal hypotonia Specific learning disability Conductive hearing impairment Bilateral conductive hearing impairment Choanal stenosis Atresia of the external auditory canal Choanal atresia Facial asymmetry Microtia Coloboma Cleft palate Cryptorchidism Micrognathia Narrow philtrum Narrow face Smooth philtrum Mandibular prognathia Broad face Synophrys Motor delay Muscular hypotonia Macrocephaly Everted lower lip vermilion Postnatal microcephaly Bulbous nose Blepharophimosis Coarse facial features Obesity Sensorineural hearing impairment Abnormality of the head Plagiocephaly Hypermetropia Intellectual disability, mild Aggressive behavior Intellectual disability, severe Microcephaly Cupped ear Tall stature Pes planus Pectus excavatum Kyphosis Increased vertebral height



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