Table 1. Clinical data from 13 patients with the diagnosis of FDH.
| Patient | FDH1 | FDH2 | FDH3a | FDH3b | FDH4 | FDH5 | FDH6 | |
|---|---|---|---|---|---|---|---|---|
| PORCN mutation | c.1317G>A p.W439X | c.1290C>A p.Y430X | c.166_167dupAC p.V57PfsX60 | c.166_167dupAC p.V57PfsX60 | c.268C>T (M) p.R90X | c.374-46T>A | c.221G>A p.W74X | |
| Skin | Linear skin lesions | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Hyperpigmentation | Yes | Yes | — | Yes | Yes | — | Yes | |
| Fat herniation | Yes | — | — | — | — | — | Yes | |
| Nail dysplasia | Yes | — | — | — | Right foot | Yes | Yes | |
| Patchy hairlessness | Yes | — | — | — | Yes | — | — | |
| Skeleton | Syndactyly | RH III-IV | LH II-III LF II-III | — | RF II-III | RF III-IV | RF | — |
| Other asymmetric limb defects | Bilateral split foot, polydactyly left hand, hypoplastic thumbs | cleft left foot | ND | Hypoplastic right thumb, rudimentary preaxial polydactyly right | ND | Polydactyly left foot | Clino-camptodactyly right 5th finger | |
| Cleft palate | — | — | — | Yes | — | Yes | — | |
| Oral findings | Dental defects | Yes | ND | ND | ND | ND | ND | Yes |
| Oligodontia | Yes | — | — | — | — | — | Yes | |
| Ear | Dysmorphic auricles | Bilateral | ND | ND | Right | Right | Yes | Bilateral |
| Preauricular appendage | — | ND | ND | Yes | ND | ND | — | |
| Eye | Microphthalmia | — | Yes | — | — | Right | Left | — |
| Coloboma | — | — | — | — | Iris and choroidea | Right iris | — | |
| Brain | Microcephaly | Yes | — | — | Yes | Yes | Yes | Yes |
| Internal organs | Heart defect | — | Pulmonic atresia, atrial septal defect, ventricular septal defect, overriding aorta | — | Atrial septal defect | — | — | Ventricular septal defect (self healing) |
| Omphalocele/umbilical hernia | — | Umbilical hernia | — | — | Omphalocele | — | Omphalocele | |
| Developmental delay | — | ND | ND | NA | ND | ND | Yes | |
| IUGR | Yes | Yes | — | — | — | Yes | — | |
| Other findings | Short stature, anal atresia, bladder exstrophy, horseshoe kidney | Low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome | Short stature, one abortion due to limb defects, five spontaneous abortions | Hypoplastic labia | Cleft lip, stenosis of external ear canal, sclerocornea | Strabismus, hyper metropia, upslanting palpebral fissures, asymmetric face, bulbous nasal tip, dorsal lymphedema of the feet during infancy, absent tear duct on the left, single transverse crease on the right palm | ||
| FDH7 | FDH8 | FDH9 | FDH10 | FDH11 | FDH12 | |||
| c.1186C>T (M) p.R396X | c.1082A>T p.E361V | c.509G>A p.W170X | c.49dupT p.C17LfsX11 | c.1154G>A p.C385Y | c.727C>T p.R243X | |||
| Skin | Linear skin lesions | Yes | Yes | Yes | Yes | Yes | Yes | |
| Hyperpigmentation | — | — | Yes | — | — | — | ||
| Fat herniation | — | — | — | — | Yes | — | ||
| Nail dysplasia | — | left hand | — | Yes | Yes | — | ||
| Patchy hairlessness | — | — | Yes | — | — | — | ||
| Skeleton | Syndactyly | LH II-III | RH II-III, IV-V RF II-III F I-II, IV-V | RH/LH III-IV RF II-III | LH II-III | RH IV-V | RH/LH II-III RF/LF | |
| Other asymmetric limb defects | Clinodactyly | Cleft right hand, cleft feet | Right leg shorter | Cleft feet, camptodactyly | Cleft hands and feet, oligodactyly hands and feet | Oligodactyly | ||
| Cleft palate | — | — | — | — | — | — | ||
| Oral findings | Dental defects | Yes | Yes | Yes | ND | Yes | ND | |
| Oligodontia | — | Yes | Yes | — | Yes | — | ||
| Ear | Dysmorphic auricles | ND | Bilateral | ND | Bilateral | Bilateral | Bilateral | |
| Preauricular appendage | ND | ND | ND | right | — | ND | ||
| Eye | Microphthalmia | — | Right | — | Bilateral | Right | — | |
| Coloboma | — | Bilateral: iris and retina | — | Left eyelid | Right: iris and choroidea | Iris | ||
| Brain | Microcephaly | — | Yes | — | Yes | Yes | — | |
| Internal organs | Heart defect | — | — | — | — | — | Hypoplastic left heart | |
| Omphalocele/umbilical hernia | — | Umbilical hernia | — | Umbilical hernia | Abdominal wall defect with bladder ectopia | Omphalocele | ||
| Developmental delay | ND | — | — | Yes | Yes | ND | ||
| IUGR | — | Yes | — | Yes | Yes | Yes | ||
| Other findings | Asymmetric face | Cleft lip, moderate hearing deficit, acute lymphatic leukemia, strabismus convergens, inguinal hernia | Lymphedema, teleangiectasia, fibroma, bony cyst of fibula, mobile kidney with hydronephrosis | Low set ears, aniridia, glaucoma, luxations of the lens, blue sclera, thorax deformation, ectopic kidney, gastroeso-phageal reflux, large clitoris, hypoplastic labia | Single umbilical artery, lateral displacement of pubic bones | Lethal outcome |
IUGR, intrauterine growth retardation; LF, left foot; LH, left hand; (M), mosaic; NA, not analyzed; ND, not documented; RF, right foot; RH, right hand.