From HPO
Microtia- MedGen UID:
- 57535
- •Concept ID:
- C0152423
- •
- Congenital Abnormality
Underdevelopment of the external ear.
Short clavicles- MedGen UID:
- 96529
- •Concept ID:
- C0426799
- •
- Congenital Abnormality
Reduced length of the clavicles.
Widely patent fontanelles and sutures- MedGen UID:
- 336570
- •Concept ID:
- C1849300
- •
- Finding
An abnormally increased width of the cranial fontanelles and sutures.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Parietal foramina- MedGen UID:
- 505331
- •Concept ID:
- CN002451
- •
- Finding
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Dermoid cyst- MedGen UID:
- 41504
- •Concept ID:
- C0011649
- •
- Neoplastic Process
A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Ear malformation