Acrofacial dysostosis, Palagonia type

Definition

Orphanet

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome (see this term), although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Malar flattening H,
y,
p,
o,
t,
r,
o,
p,
h,
i,
c,
,
m,
a,
l,
a,
r,
,
b,
o,
n,
e,
,,
,
M,
a,
l,
a,
r,
,
h,
y,
p,
o,
p,
l,
a,
s,
i,
a,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
s,
i,
z,
e,
,
o,
f,
,
m,
a,
l,
a,
r,
,
b,
o,
n,
e,
,,
,
Z,
y,
g,
o,
m,
a,
t,
i,
c,
,
f,
l,
a,
t,
t,
e,
n,
i,
n,
g,
,,
,
U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
m,
a,
l,
a,
r,
,
b,
o,
n,
e,
,,
,
D,
e,
p,
r,
e,
s,
s,
e,
d,
,
m,
a,
l,
a,
r,
,
r,
e,
g,
i,
o,
n
[more]
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Micrognathia L,
o,
w,
e,
r,
,
j,
a,
w,
,
h,
y,
p,
o,
p,
l,
a,
s,
i,
a,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
d,
e,
f,
i,
c,
i,
e,
n,
c,
y,
,,
,
R,
e,
t,
r,
u,
s,
i,
o,
n,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
H,
y,
p,
o,
p,
l,
a,
s,
t,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,
c,
o,
n,
d,
y,
l,
e,
,,
,
S,
m,
a,
l,
l,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
p,
r,
o,
j,
e,
c,
t,
i,
o,
n,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
i,
c,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
r,
e,
t,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
r,
e,
t,
r,
u,
s,
i,
o,
n,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
s,
i,
z,
e,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
M,
i,
c,
r,
o,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
H,
y,
p,
o,
t,
r,
o,
p,
h,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
H,
y,
p,
o,
t,
r,
o,
p,
h,
i,
c,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
R,
o,
b,
i,
n,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
L,
i,
t,
t,
l,
e,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
U,
n,
d,
e,
r,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
S,
m,
a,
l,
l,
,
j,
a,
w,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
s,
i,
z,
e,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
H,
y,
p,
o,
p,
l,
a,
s,
t,
i,
c,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
L,
i,
t,
t,
l,
e,
,
l,
o,
w,
e,
r,
,
j,
a,
w,
,,
,
D,
e,
c,
r,
e,
a,
s,
e,
d,
,
p,
r,
o,
j,
e,
c,
t,
i,
o,
n,
,
o,
f,
,
m,
a,
n,
d,
i,
b,
l,
e,
,,
,
M,
a,
n,
d,
i,
b,
u,
l,
a,
r,
,
m,
i,
c,
r,
o,
g,
n,
a,
t,
h,
i,
a,
,,
,
L,
o,
w,
e,
r,
,
j,
a,
w,
,
r,
e,
t,
r,
o,
g,
n,
a,
t,
h,
i,
a
[more]
Developmental hypoplasia of the mandible.
Pili torti F,
l,
a,
t,
t,
e,
n,
e,
d,
,
a,
n,
d,
,
t,
w,
i,
s,
t,
e,
d,
,
h,
a,
i,
r
[more]
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
High, narrow palate N,
a,
r,
r,
o,
w,
,
a,
n,
d,
,
h,
i,
g,
h,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
H,
i,
g,
h,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
-,
a,
r,
c,
h,
e,
d,
,
r,
o,
o,
f,
,
o,
f,
,
m,
o,
u,
t,
h,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
l,
y,
,
a,
r,
c,
h,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
G,
o,
t,
h,
i,
c,
,
p,
a,
l,
a,
t,
e,
,,
,
H,
i,
g,
h,
,
v,
a,
u,
l,
t,
e,
d,
,
p,
a,
l,
a,
t,
e,
,,
,
N,
a,
r,
r,
o,
w,
,,
,
h,
i,
g,
h,
l,
y,
,
a,
r,
c,
h,
e,
d,
,
r,
o,
o,
f,
,
o,
f,
,
m,
o,
u,
t,
h
[more]
The presence of a high and narrow palate.
Oligodontia M,
i,
s,
s,
i,
n,
g,
,
m,
o,
r,
e,
,
t,
h,
a,
n,
,
s,
i,
x,
,
t,
e,
e,
t,
h,
,,
,
N,
u,
m,
b,
e,
r,
,
o,
f,
,
t,
e,
e,
t,
h,
,
d,
e,
c,
r,
e,
a,
s,
e,
d,
,
b,
y,
,
m,
o,
r,
e,
,
t,
h,
a,
n,
,
s,
i,
x,
,,
,
F,
a,
i,
l,
u,
r,
e,
,
o,
f,
,
d,
e,
v,
e,
l,
o,
p,
m,
e,
n,
t,
,
o,
f,
,
m,
o,
r,
e,
,
t,
h,
a,
n,
,
s,
i,
x,
,
t,
e,
e,
t,
h,
,,
,
P,
a,
r,
t,
i,
a,
l,
,
a,
n,
o,
d,
o,
n,
t,
i,
a
[more]
A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Unilateral cleft lip O,
n,
e,
,
s,
i,
d,
e,
d,
,
c,
l,
e,
f,
t,
,
u,
p,
p,
e,
r,
,
l,
i,
p,
,,
,
U,
n,
i,
l,
a,
t,
e,
r,
a,
l,
,
c,
l,
e,
f,
t,
,
u,
p,
p,
e,
r,
,
l,
i,
p,
,,
,
U,
n,
i,
l,
a,
t,
e,
r,
a,
l,
,
c,
h,
e,
i,
l,
o,
s,
c,
h,
i,
s,
i,
s
[more]
A non-midline cleft of the upper lip on one side only.
Syndactyly W,
e,
b,
b,
e,
d,
,
f,
i,
n,
g,
e,
r,
s,
,
o,
r,
,
t,
o,
e,
s
[more]
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism".
Cutaneous syndactyly C,
u,
t,
a,
n,
e,
o,
u,
s,
,
s,
y,
n,
d,
a,
c,
t,
y,
l,
y,
,
o,
f,
,
d,
i,
g,
i,
t,
s
[more]
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Cleft lip C,
l,
e,
f,
t,
,
o,
f,
,
t,
h,
e,
,
l,
i,
p
[more]
A gap in the lip or lips.

Other Classifiers and IDs