Table 2.

Summary of clinical information in 18 unrelated families with phenotypic findings on limbs and appendicular skeletons

	Family	Individual	Dz, OMIM	Phenotype of upper limbs		Phenotype of lower limbs		Other phenotypes and information
				Left	Right	Left	Right
A/P	HOU2084	BAB5343	polydactyly preaxial type 4; MIM: 174700		syndactyly between third and fourth digits, postaxial polydactyly	bilateral preaxial polydactyly of halluces, syndactyly involving second and third toes			Solved
	HOU3022	BAB8289	synpolydactyly type 1; MIM: 186000		mesoaxial polydactyly and syndactyly on the fourth digit	postaxial polydactyly on fifth toe, syndactyly involving fourth toe
P/D	HOU3212	BAB8908	acromesomelic dysplasia, Maroteaux type (AMDM); MIM: 602875			bilateral macrodactyly of halluces with brachydactyly of toes
	HOU2130	BAB5498	AMDM; MIM: 602875	brachydactyly; short, broad metacarpals/metatarsals and phalanges; restricted elbow extension				pectus excavatum, micromelia with predominant rhizomelia
		BAB5499						short, bowed forearm; platyspondyly; thoracic kyphosis; and congenital hip dislocation
	HOU1410	BAB3611	AMDM; MIM: 602875	Brachydactyly; short, broad metacarpals/metatarsals and phalanges; hyperextensibility of metacarpals; restricted elbow extension				short and thick humeri, platyspondyly
		BAB3612		Brachydactyly; short, broad metacarpals/metatarsals and phalanges; tubular bone shortness				short and thick humeri, platyspondyly, flattened acetabulum and coxa vara
	HOU1409	BAB3606	AMDM; MIM: 602875	Brachydactyly; short, broad metacarpals/metatarsals and phalanges				short and thick humeri, platyspondyly
		BAB3607
	HOU2346	BAB6262	split-hand/foot malformation (SHFM) type 6; MIM: 225300		syndactyly involving third and fourth digit	bilateral split foot and syndactyly
		BAB8610		joint contracture on second digit
	HOU3360	BAB9281		bilateral split hand, oligodactyly, and syndactyly		bilateral split foot and syndactyly
		BAB9286
		BAB9316
	HOU1397	BAB4812	SHFM5; MIM: 606708	bilateral split hand, oligodactyly, and syndactyly		bilateral syndactyly involving third and fourth toes		see Supplemental Note
	HOU3586 (F35a)	BAB9661 (F35-1)	SHFM with long bone deficiency type 3; MIM: 612576	bilateral split hand		bilateral tibial aplasia
		BAB9662 (F35-2)		bilateral split hand, triphalangeal thumbs		bilateral tibial aplasia
	HOU3358	BAB9273	GWC; MIM: 228250			bilateral femur bifurcation, absent of tibia and monodactyly
N/A	HOU1558	BAB4015	N/A			preaxial polydactyly (seven digits) with duplicated hallux and second toe		sacral dimple, age-appropriate neuromotor development, secundum type atrial septal defect, normal brain MRI, abdominal ultrasound and eye examination; no consanguinity between parents, and our child is the first child of the couple	unsolved
	HOU1780	BAB4381	N/A				anteriorly placed fifth toe	5-day-old male infant born at 33rd gestational week with a birth weight of 1,800 g; atresia of anus and duodenum, hypospadias, high and narrow palate, atypical hair color; karyotype and cranial ultrasound unremarkable; died because of multiple medical comorbidities; parents were first-degree cousins
	HOU1841	BAB4486	fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome; MIM: 246570				unilateral (right) fibular aplasia, tibial bowing and hypoplasia (campomelia), rudimentary right foot with oligosyndactyly	parents are unrelated, he has one healthy sister
	HOU2133	BAB5510		oligosyndactyly with micromelia on second and third digits	oligodactyly with absence of fifth ray	bilateral fibular aplasia, tibial campomelia, and oligosyndactyly		case report was previously published by Sezer et al.99
	HOU2245	BAB5902	N/A	bilateral camptodactyly with left hand oligodactyly, single palmar crease		brachydactyly on fourth and fifth toes		short statute, facial dysmorphism, narrow thorax, patent ductus arteriosus, ID, and splenomegaly
	HOU4419	BAB11857	N/A	bilateral upper limb deformity with absence of thumbs				normal weight, height, and head circumference; epilepsy; no consanguinity between parents
	HOU4083	BAB11205	N/A	syndactyly between second and third digits		bilateral oligodactyly, short and bowing femora		see Supplemental Note	candidate (NLK: c.982C>T [p.Gly328∗])

Dz, disease; A/P, anterior/posterior; P/D, proximal-distal.

^aThis family was published previously as family 35 (F35) by da Rocha et al.⁵³