Abnormal facial shape, and Joint hypermobility

Diseases related with Abnormal facial shape and Joint hypermobility

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


Top matches:

Low 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

Low match MENTAL RETARDATION, X-LINKED 99; MRX99


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Low 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

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Low match OSTEOGENESIS IMPERFECTA TYPE 5


Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Joint hypermobility

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Gingival overgrowth Global developmental delay Sensorineural hearing impairment Generalized hypotonia Blepharophimosis Bulbous nose

Rare Symptoms - Less than 30% cases


Hypertrichosis Synophrys Irregular vertebral endplates Wide nasal bridge Genu valgum Seizures Platyspondyly Triangular face Thick eyebrow Macroglossia Small nail Round face Narrow mouth Broad forehead Anonychia Dolichocephaly Prominent nose Epiphyseal dysplasia Macrocephaly Pes planus Palpebral edema Relative macrocephaly Ptosis Midface retrusion Brachydactyly Abnormality of the hand Thick vermilion border Everted lower lip vermilion Short phalanx of finger Osteoarthritis Joint dislocation Disproportionate short-limb short stature Genu varum Triphalangeal thumb Hip dysplasia Waddling gait Spondyloepiphyseal dysplasia Short metacarpal Congenital sensorineural hearing impairment Agenesis of permanent teeth Selective tooth agenesis Abnormality of digit Conical tooth High-frequency hearing impairment Anhidrotic ectodermal dysplasia Absent toenail Mild short stature Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Gait disturbance Limitation of joint mobility Severe short stature Arthralgia Joint stiffness Micromelia Severe sensorineural hearing impairment Short palm Hypoplasia of teeth Aplasia cutis congenita Short fourth metatarsal Short femoral neck Dislocated radial head Limb undergrowth Blue sclerae Rhizomelia Wormian bones Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Mixed hearing impairment Barrel-shaped chest Hyperlordosis Vertebral compression fractures Dentinogenesis imperfecta Biconcave vertebral bodies Vertebral wedging Limited pronation/supination of forearm Thin calvarium Dense metaphyseal bands Anterior radial head dislocation Recurrent fractures Abnormality of the eye Delayed epiphyseal ossification Pseudoepiphyses Ovoid vertebral bodies Generalized joint laxity Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Small epiphyses Broad femoral neck Hip osteoarthritis Premature osteoarthritis Thin upper lip vermilion Oligodontia Limited hip movement Scoliosis Abnormality of the dentition Abnormality of metabolism/homeostasis Pectus excavatum Mandibular prognathia Osteopenia Reduced number of teeth Thick lower lip vermilion Bilateral sensorineural hearing impairment Depressed nasal ridge Abnormal heart valve morphology Short neck Kyphosis Upslanted palpebral fissure Hirsutism Underdeveloped nasal alae Long eyelashes Aortic valve stenosis Deep philtrum Widow's peak Bifid nasal tip Broad eyebrow Prominent nasal septum Cleft palate Cataract Tricuspid regurgitation Dental crowding Malar flattening Low-set ears Generalized hirsutism Furrowed tongue Oral synechia Constipation Prominent forehead Aggressive behavior Broad thumb High palate Mitral valve prolapse Arrhythmia Delayed skeletal maturation Abnormality of the pinna Short philtrum Pulmonic stenosis Long face Abnormality of the skin Myopia Astigmatism Hypotelorism Thick nasal alae Thickened skin Abnormality of the metacarpal bones Large hands Long nose Craniofacial hyperostosis Abnormality of the tongue Abnormal lip morphology Tapered finger High forehead Deeply set eye Nail dystrophy Toe syndactyly Short distal phalanx of finger Ectodermal dysplasia Nail dysplasia Sloping forehead Highly arched eyebrow Flat face Long philtrum Retinal detachment Amblyopia Abnormality of epiphysis morphology Vitreoretinopathy Cryptorchidism Feeding difficulties Depressed nasal bridge Clinodactyly Intellectual disability, mild Carcinoma Smooth philtrum Thin vermilion border Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Hypertelorism Hyperplastic callus formation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Upslanted palpebral fissure, related diseases and genetic alterations Congestive heart failure and Abnormality of movement, related diseases and genetic alterations Fever and Syncope, related diseases and genetic alterations Myopathy and Pancytopenia, related diseases and genetic alterations Immunodeficiency and Hepatocellular carcinoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more