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General Information (adopted from Orphanet):

Synonyms, Signs:	SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY ECTRODACTYLY WITH APLASIA OF LONG BONES TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY SHFLD1 APLASIA OF TIBIA WITH ECTRODACTYLY CLEFT HAND AND ABSENT TIBIA SHFLD
Number of Symptoms	12
OrphanetNr:
OMIM Id:	119100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

No data available.

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0000378)	Cupped ear	34 / 7739
2	(HPO:0010109)	Short hallux	27 / 7739
3	(HPO:0005632)	Absent forearm	4 / 7739
4	(HPO:0006443)	Patellar aplasia	14 / 7739
5	(HPO:0006495)	Aplasia/Hypoplasia of the ulna	7 / 7739
6	(HPO:0009556)	Absent tibia	9 / 7739
7	(OMIM)	Tetramonodactyly	1 / 7739
8	(OMIM)	Cleft hand	1 / 7739
9	(OMIM)	Absent middle finger	1 / 7739
10	(OMIM)	Transverse hemimelia	1 / 7739
11	(OMIM)	Flexed ring finger	1 / 7739
12	(OMIM)	Distal hypoplasia or bifurcation of the femurs	1 / 7739

Additional Information:

Clinical Description OMIM

Roberts (1967) described a family in which persons in 4 generations had one cleft hand with a missing middle finger and flexed ring finger; one person also had grossly deformed legs with missing tibias requiring amputation and a ... Roberts (1967) described a family in which persons in 4 generations had one cleft hand with a missing middle finger and flexed ring finger; one person also had grossly deformed legs with missing tibias requiring amputation and a sib had only the severe leg deformity. Another member had absent forearms with the leg deformity. Majewski et al. (1985) stated that this disorder was first described by Otto in 1850 in a fetus and that the first familial instance was published by White and Baker (1888). Majewski et al. (1985) reported 6 families and concluded that the disorder is autosomal dominant with markedly reduced penetrance. In addition to bilateral aplasia of the tibias and split-hand/split-foot deformity (the full-blown syndrome), malformations may include distal hypoplasia or bifurcation of the femurs, hypo- or aplasia of the ulnas, and minor anomalies such as aplasia of the patellas, hypoplastic big toes, and cup-shaped ears. They stated that the mildest visible manifestation may be hypoplastic big toes, whereas the severest is tetramonodactyly or transverse hemimelia. Sener et al. (1989) described a 19-year-old man with bilateral involvement of the hands and legs. His parents were first cousins. A great-great-grandfather through both his mother and his father was said to have had grossly deformed legs with unilateral split-hand. Der Kaloustian and Mnaymneh (1973) described this syndrome in the offspring of parents related as first cousins once removed. Another member of the family related as a first cousin to the proband's mother and as a first cousin once removed to the proband's father was identically affected. Naveed et al. (2006) described an 8-generation consanguineous Arab family with multiple severe limb anomalies resembling ectrodactyly with aplasia of the long bones. Eighteen of 23 affected individuals had tibial aplasia, mostly unilateral and on the right side. Expression of the phenotype was variable and included ectrodactyly, syndactyly, camptodactyly, short femur, and clubfoot, with or without bilateral or unilateral tibial aplasia. The mode of inheritance appeared to be autosomal dominant with reduced penetrance.

SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

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