Abnormal facial shape, and Everted lower lip vermilion

Diseases related with Abnormal facial shape and Everted lower lip vermilion

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


Top matches:

Medium match HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME


Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

Medium 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

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

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Other less relevant matches:

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Medium match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Medium match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Medium match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Medium match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Everted lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Bulbous nose Depressed nasal bridge Blepharophimosis Microcephaly Generalized hypotonia Global developmental delay Growth delay Delayed speech and language development Intellectual disability, mild Palpebral edema Coarse facial features

Rare Symptoms - Less than 30% cases


Cupped ear Ptosis Long nose Epicanthus Downslanted palpebral fissures Full cheeks Open mouth Motor delay Anteverted nares Micrognathia Round face Intrauterine growth retardation Broad nasal tip Short chin Highly arched eyebrow Periorbital fullness Gingival overgrowth Joint hyperflexibility Thick lower lip vermilion Generalized hirsutism Hearing impairment Thick vermilion border Sparse eyelashes Coloboma Facial asymmetry Hypoplasia of the maxilla Dental crowding Preauricular skin tag Sparse and thin eyebrow Bicuspid aortic valve Abnormality of the pinna Sparse eyebrow Preauricular pit Hydroureter Glossoptosis Stenosis of the external auditory canal Trismus Protruding ear Conductive hearing impairment Unsteady gait Wide mouth Falls Wide nose Prominent nose Intention tremor Smooth philtrum Frequent falls Autistic behavior Alopecia Mildly elevated creatine phosphokinase Impaired social interactions Cleft palate Wide nasal bridge Eyelid coloboma Depressivity Abnormality of the dentition Delayed eruption of primary teeth Mandibulofacial dysostosis Hypermetropia Macrocephaly Ventriculomegaly Pectus excavatum Narrow mouth Mandibular prognathia High forehead Anxiety Astigmatism Nystagmus Long face Overgrowth Narrow face Coxa valga Accelerated skeletal maturation Cutis marmorata Long fingers Strabismus Scoliosis Thin upper lip vermilion Underdeveloped nasal alae Lower eyelid coloboma Short stature Midface retrusion Clinodactyly Posteriorly rotated ears Short philtrum Short distal phalanx of finger Growth hormone deficiency Abnormality of the columella Small nail Short palpebral fissure Hypertrichosis Long eyelashes Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the nervous system Upslanted palpebral fissure Autism Failure to thrive Intellectual disability, moderate Decreased antibody level in blood Macrotia Agammaglobulinemia Chronic bronchitis Neoplasm Hydrocephalus Retrognathia Long philtrum Prominent forehead Broad forehead Papule Pruritus Abnormality of skin pigmentation Obesity Respiratory tract infection Recurrent respiratory infections Nevus Downturned corners of mouth Intellectual disability, severe Cerebral atrophy Absent speech Deeply set eye Neonatal hypotonia Aggressive behavior Generalized tonic-clonic seizures Tented upper lip vermilion Pneumonia Prominent supraorbital ridges Narrow palpebral fissure High palate Bilateral sensorineural hearing impairment Specific learning disability Immunodeficiency Recurrent infections Sensorineural hearing impairment Subcutaneous nodule Brachycephaly Large hands Abnormality of the hand Tapered finger Macroglossia Sloping forehead Thickened skin Abnormality of the metacarpal bones Craniofacial hyperostosis Synophrys Abnormality of the tongue Thick nasal alae Abnormal lip morphology Pain Tremor Elevated serum creatine phosphokinase Macroorchidism Thick eyebrow Furrowed tongue Neoplasm of the skin Calvarial skull defect Hypopigmented skin patches Melanoma Sarcoma Deep philtrum Melanocytic nevus Hypermelanotic macule Narrow nasal bridge Rhabdomyosarcoma Oral synechia Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Advanced eruption of teeth



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