| Disease ID | Source | Name | Description |
| 263650 | OMIM | Bartsocas-Papas syndrome (BPS) | An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported. The disease is caused by variants affecting the gene represented in this entry. |
| 214350 | OMIM | CHAND syndrome (CHANDS) | An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula. The disease may be caused by variants affecting the gene represented in this entry. |