Short stature, and Flat face

Diseases related with Short stature and Flat face

In the following list you will find some of the most common rare diseases related to Short stature and Flat face that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Other less relevant matches:

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

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

Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Top 5 symptoms//phenotypes associated to Short stature and Flat face

Symptoms // Phenotype % cases
Genu valgum Uncommon - Between 30% and 50% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Short stature and Flat face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Platyspondyly Micrognathia Myopia Short neck Short nose Cataract Retinal detachment Talipes equinovarus Narrow chest

Rare Symptoms - Less than 30% cases

Abnormality of epiphysis morphology Coxa vara Short thorax Sensorineural hearing impairment Abnormality of cardiovascular system morphology Narrow mouth Brachydactyly Short foot Short metacarpal Carpal synostosis Frontal bossing Anteverted nares Long philtrum Proptosis Polyhydramnios Aplasia/Hypoplasia of the lungs Vitreoretinopathy Abnormal enchondral ossification Femoral hernia Lethal skeletal dysplasia Pectus excavatum Severe short stature Hyperlordosis Umbilical hernia Astigmatism Macrocephaly Thickened nuchal skin fold Hydrops fetalis Thoracic hypoplasia Disproportionate short-limb short stature Cystic hygroma Short finger Osteosarcoma Madelung deformity Hypophosphatemia Chondrosarcoma Hemangioma Pelvic bone exostoses Multiple exostoses Cervical myelopathy Sarcoma Osteochondroma Abnormality of the foot Pathologic fracture Exostoses Sparse hair Enchondroma Blue sclerae Abdominal distention Disproportionate short stature Abnormality of the ribs Craniofacial disproportion Advanced ossification of carpal bones Long upper lip Flared metaphysis Hyperextensible skin Cutis laxa Decreased body weight Hip dislocation Rib exostoses Neoplasm Osteopenia Kyphoscoliosis Prominent forehead Generalized hypotonia Global developmental delay Madelung-like forearm deformities Protuberances at ends of long bones Peripheral nerve compression Scapular exostoses Depressivity High myopia Irregular vertebral endplates Ovoid vertebral bodies Short palm Conductive hearing impairment Dysplastic iliac wings Metaphyseal spurs Posterior rib cupping Hypoplastic pubic bone Narrow iliac wings Irregular epiphyses Small epiphyses Enlarged joints Spondyloepimetaphyseal dysplasia Flat acetabular roof Short phalanx of finger Limited elbow extension Bowing of the legs Metaphyseal widening Short long bone Lumbar hyperlordosis Limb undergrowth Waddling gait Degenerative vitreoretinopathy Irregular capital femoral epiphysis Rhegmatogenous retinal detachment Flat capital femoral epiphysis Round face Coxa valga Amblyopia Osteoarthritis Joint hyperflexibility Malar flattening Coronal craniosynostosis Patellar dislocation Joint dislocation Short toe High forehead Severe sensorineural hearing impairment Wide nasal bridge Abnormal facial shape Growth delay Limitation of joint mobility Spondyloepiphyseal dysplasia Broad forehead Skeletal dysplasia Glaucoma Kyphosis Nystagmus Hypertelorism Scoliosis Asteroid hyalosis Retinal thinning Multiple epiphyseal dysplasia Retinal dysplasia Anonychia Postaxial hand polydactyly


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