arched palate and cleft palate), scoliosis, fifth finger brachydactyly and persistence of finger pads. [intechopen.com]

Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., [mendelian.co]

The radiological hallmarks of these patients included severe platyspondyly with square-shaped vertebral bodies, iliac hypoplasia, epiphyseal hypoplasia of the large joints, and strikingly short metacarpals and phalanges. [onlinelibrary.wiley.com]

[…] frequent (99-80%) HP:0000248 9 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343 10 ovoid vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003300 11 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774 12 platyspondyly [malacards.org]

Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centers. short neck short trunk with protruding abdomen normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly [radiopaedia.org]

Radiographs revealed platyspondyly with rounding of the vertebral bodies,generalized irregular metaphyses of the long bones,bilateral coxa vara,and retarded skeletal age of the carpal bones. [webview.isho.jp]

Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and most characteristically, broad, elongated femoral necks with striking coxa valga were identical in all patients, but the patient of the [link.springer.com]

valga 60 33 hallmark (90%) Very frequent (99-80%) HP:0002673 14 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286 15 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714 16 flattened epiphysis 60 33 hallmark [malacards.org]

Coxa Valga [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired. [rrnursingschool.biz]

Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and most characteristically, broad, elongated femoral necks with striking coxa valga were identical in all patients, but the patient of the [link.springer.com]

In Moriquio’s disease, the pelvis shows supra-acetabular constriction, coxa valga, and narrow femoral necks. The lumbar vertebral bodies tend to be more severely affected than the thoracic. [e-kjgm.org]

[…] pseudohermaphroditism Facial hypotonia Ovarian cyst Protruding tongue Shawl scrotum Microcytic anemia Self-injurious behavior Dysphasia Spastic diplegia Hydroureter Tented upper lip vermilion Abnormality of the kidney Polycystic ovaries Hemivertebrae Coxa [mendelian.co]

Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993). [rrnursingschool.biz]

Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities. [emedicine.medscape.com]

Patients have bone dysplasia as described in achondroplasia, but more severe are important short stature, micromelia, macrocephaly, frontal bossing, wide anterior fontanelle, mid‐face hypoplasia, bowed tibia and narrow thorax [ 22 ]. [intechopen.com]

At age 2 months, a narrow thorax was noticed anda diagnosis of Jeune asphyxiating thoracic dystrophy was enter-tained but subsequently rejected. [docslide.com.br]

brachydactyly unlike the other two patients. [link.springer.com]

bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007 28 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 29 hypopigmentation of the fundus 60 33 frequent (33%) Frequent (79-30%) HP:0007894 30 abnormality of cranial sutures 60 33 frequent [malacards.org]

Related symptoms: Hypertension Frontal bossing Kyphosis Abnormality of the dentition Fatigue SOURCES: ORPHANET ICD10 More info about ACROMEGALY Too many results? We can help you with your rare disease diagnosis. [mendelian.co]

Major characteristics of achondroplasia include the following [7] : Disproportionate short stature with rhizomelic (proximal) shortening of the arms and legs and large head with frontal bossing Trident hand configuration Average final height: 130 cm for [emedicine.medscape.com]

The clinical picture is represented by the specific skeletal features: short rhizomelic limbs, relative macrocephaly, frontal bossing with mid‐face hypoplasia, trident hands and hyperlordosis. [intechopen.com]

The affected adults were severely short along with stubby hands and feet, and one developed myelopathy as a result of thoracolumbar gibbus. The affected child was mildly short at birth, and developed brachydactyly in early childhood. [onlinelibrary.wiley.com]

Except cases of cervical myelopathy walking ability was not limited in juvenile patients, whereas a large number of adult patients complained of gait disturbance. [ci.nii.ac.jp]

bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary hypertrophic osteoarthropathy [se-atlas.de]