The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. Maffucci syndrome
Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. Osteosclerosis
Osteosclerosis, an elevation in bone density, is normally detected on an X-ray as an area of whiteness, and is where the bone density has significantly increased. Localized osteosclerosis can be caused by injuries that compress the bone, by osteoarthritis, and osteoma. Other
Deformity type Erlenmeyer flask gives a distal femur similar to an Erlenmeyer flask. It may result from Gaucher disease. Kashin–Beck disease
Melnick–Needles syndrome
Ovine chondrodysplasia
Familial osteodysplasia, Anderson type

Diagnosis
The diagnosis is mainly based upon delineating the specific clinical and radiographic pattern of skeletal involvement. However, the different types of skeletal dysplasia can overlap considerably in their clinical presentation. Molecular or genetic analysis may be required to resolve diagnostic difficulties. Molecular analysis is also of importance to the phenotype genotype correlations and to disease classifications. Differential diagnosis
Juvenile idiopathic arthritis may closely resemble the clinical presentation of some osteochondrodysplasias or genetic skeletal dysplsias. In that, both conditions can present with swollen, stiff and deformed joints. Treatment
Emerging therapies for genetic skeletal dysplasias include  enzyme replacement therapy,  hematopoietic stem cell transplantation and  gene therapy.
Acne conglobata is a highly inflammatory disease presenting with comedones, nodules, abscesses, and draining sinus tracts.This condition generally begins between the ages of 18 and 30. It usually persists for a very long time, and often until the patient is around 40 years old. Although it often occurs where there is already an active acne problem, it can also happen to people whose acne has subsided. Although the cause of this type of acne is unknown, it is associated with testosterone and thus appears mainly in males. It can be caused by anabolic steroid abuse and sometimes appears in males after stopping testosterone therapy. It can also happen to someone who has a tumor that is releasing large amounts of androgens, or to people in remission from diseases, such as leukemia. In certain persons, the condition may be triggered by exposure to aromatic hydrocarbons or ingestion of halogens. Presentation
Acne conglobata is a severe, inflammatory variant of acne. Inflammatory papules, papulonodules, nodules and pustules may coalesce, and abscesses in the skin may form sinuses that interconnect. Bleeding or draining of acneiform plaques may be present. The systemic findings seen in acne fulminans are not present. A component of the follicular occlusion tetrad, acne conglobata may be seen with hidradenitis suppurativa, pilonidal disease and dissecting cellulitis of the scalp. The face, chest, back and buttocks may be involved. Treatment
The most common treatment is the acne medication isotretinoin. It may be combined with prednisone. Antibiotics such as dapsone, tetracycline or erythromycin may also be prescribed.