From HPO
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Enchondromatosis- MedGen UID:
- 41775
- •Concept ID:
- C0014084
- •
- Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987).
Classification of the Enchondromatoses
In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).
Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Multiple congenital exostosis- MedGen UID:
- 4612
- •Concept ID:
- C0015306
- •
- Congenital Abnormality
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).
Abnormal joint morphology- MedGen UID:
- 893053
- •Concept ID:
- C0240083
- •
- Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Bowing of the long bones- MedGen UID:
- 340849
- •Concept ID:
- C1855340
- •
- Congenital Abnormality
A bending or abnormal curvature of a long bone.
Multiple digital exostoses- MedGen UID:
- 870708
- •Concept ID:
- C4025162
- •
- Neoplastic Process
Multiple exostoses originating in the fingers and toes.
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation