
Other congenital musculoskeletal anomalies

Congenital anomalies of skull and face bones
- autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.
- premature closure of one or more sutures of the skull.

Congenital anomalies of spine

Congenital anomaly of spine unspecified

Congenital spondylolysis lumbosacral region

Spondylolisthesis congenital

Absence of vertebra congenital

Hemivertebra

Fusion of spine (vertebra) congenital

Klippel-feil syndrome

Spina bifida occulta

Other congenital anomalies of spine

Cervical rib

Other congenital anomalies of ribs and sternum

Chondrodystrophy
- autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.
- An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH)
- morbid condition characterized by abnormal development of cartilage.
- A rare benign disorder characterized by lack of normal endchondral ossification, and the growth of multiple enchondromas. It primarily affects the bones of the hand, in children and young adults. Extent of the disease varies; in some cases, neoplastic involvement may be wide spread causing considerable deformity.

Congenital osteodystrophies

Congenital osteodystrophy unspecified

Osteogenesis imperfecta
- autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.

Osteopetrosis
- excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.

Osteopoikilosis

Polyostotic fibrous dysplasia of bone

Chondroectodermal dysplasia
- Chondrodysplasia of long bones affecting mainly the distal ends of extremities and resulting in short-limb dwarfism, hexadactyly of the fingers and less frequently the toes; ectodermal dysplasia with nail and hair abnormalities, and congenital heart defects. Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and Dandy-Walker syndrome (absence of cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). Some patients are retarded. The largest pedigree was observed in Old Order Amish in Lancaster County, Pennsylvania and some cases were reported in Australian Aborigines.

Multiple epiphyseal dysplasia

Other congenital osteodystrophies

Congenital anomalies of diaphragm

Congenital anomalies of abdominal wall

Anomaly of abdominal wall unspecified

Prune belly syndrome
- A syndrome of hypoplasia or aplasia of the abdominal muscle, presenting a thin, loose, wrinkled and shriveled (prunelike) abdominal wall, with furrowlike umbilicus, and other anomalies, including persistent urachus, pigeon breast deformity, and a variety of gastrointestinal, cardiovascular, urogenital, and skeletal abnormalities. Prune belly syndrome may occur with or without pulmonic stenosis, deafness, and mental retardation. Distention of the bladder and urethra in utero is considered as a possible cause of abdominal overdistention.

Other congenital anomalies of abdominal wall

Other specified congenital anomalies of muscle tendon fascia and connective tissue

Congenital absence of muscle and tendon

Accessory muscle

Ehlers-danlos syndrome
- group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors.

Other specified congenital anomalies of muscle tendon fascia and connective tissue

Other and unspecified congenital anomalies of musculoskeletal system