SHFM type II | WB† | C | O, H | Tibial aplasia | Mother has split hand malformation; 2 maternal 1st cousins twice removed were reported to have limb deficiencies similar to proband | |
SHFM type II | FL† | C, M | O | Tibial aplasia, humerus hypoplasia, forearm a/hypoplasia | Twin brother and mother have phenotype similar to proband; extensive family history of SHFM type II in autosomal dominant pattern with incomplete penetrance | |
SHFM type II | JP† | C, S, M | S, H | Tibial aplasia, forearm a/hypoplasia | Mother has finger syndactyly and toe hypoplasia; maternal great aunt, uncles, and 2nd cousins reported to have variable limb deficiencies | |
SHFM type II | LH†‡ | C, S | O, S | Tibial hypoplasia | Extensive family history of SHFM type II in autosomal dominant pattern with incomplete penetrance | Preauricular tags in proband |
SHFM type II | FW | N | C, S | None | Mother has tibial a/hypoplasia with split hand malformation and monodactylous feet; maternal aunt and grandfather have split foot malformations | Small, malformed ears in proband, mother, and aunt; hearing loss in aunt and grandfather |
SHFM type II | EH† | S, Cl | H, N | Tibial aplasia | Great grandmother had split hand malformation; several other relatives reported to have variable limb deficiencies | Distal duplication of femur in proband |
SHFM type II | RC | C | C | Left tibia aplasia | Familial | |
SHFM type II | ACR | O, S, M | S | Forearm hypoplasia | Sporadic | Hearing loss |
SHFM type II | AM | M | O, S | Tibial aplasia, femoral hypoplasia, ulnar v radial aplasia | Sporadic | |
SHFM type II | TS | N | O, S, H | Tibial and fibular hypoplasia | Sporadic | Cutaneous haemangioma |
SHFM type II | JL† | O, S | O, S | Forearm hypoplasia, femoral hypoplasia, fibular aplasia | Sporadic | |
SHFM type II | CN† | C, S | N | Ulnar hypoplasia | Sporadic | |
SHFM type II | AS† | C, M | N | Forearm a/hypoplasia | Sporadic | |
SHFM type II | LL† | N | C, M | Tibial v fibular aplasia | Sporadic | |
SHFM type II | ME† | N | O, H | Tibial v fibular hypoplasia | Sporadic | |
SHFM type II | JS | N | O, S, H | Tibial hypoplasia | Sporadic | Facial asymmetry |
SHFM type I | KI | M | N | None | Mother has central toe hypoplasia | |
SHFM type I | RC | Na | C, Na | None | Sporadic | |
SHFM type I | RM | N | C, S | None | Sporadic | Short nasal septum, dry skin |
SHFM type I | CD | S, Cl, P | C | None | Sporadic | Triphalangeal thumb, bifid thumb |
SHFM type I | ZO | O, S | C | None | Sporadic; 4th degree relative with isolated cleft palate | Sparse hair and eyebrows |
SHFM type I | KC | C | C, H | None | Sporadic | |
SHFM-Syn | KO | C | S | None | Sporadic | Childhood seizures, mental retardation |
SHFM-KNS | NG | S, P | C | None | Sporadic | Nystagmus, developmental delay, Karsch-Neugebauer syndrome |