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Acrofacial dysostosis, Rodriguez type

General Information (adopted from Orphanet):

Synonyms, Signs:	RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
Number of Symptoms	58
OrphanetNr:	1788
OMIM Id:	201170
ICD-10:	Q75.4
UMLs:	C1860119
MeSH:	C538183
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	< 10 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Acrofacial dysostosis
-Rare bone disease
-Rare developmental defect during embryogenesis
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
2	(HPO:0000130)	Abnormality of the uterus	Occasional [Orphanet]	86 / 7739
3	(HPO:0000160)	Narrow mouth		188 / 7739
4	(HPO:0000316)	Hypertelorism		644 / 7739
5	(HPO:0000431)	Wide nasal bridge		290 / 7739
6	(HPO:0000347)	Micrognathia		426 / 7739
7	(HPO:0000272)	Malar flattening	Very frequent [Orphanet]	277 / 7739
8	(HPO:0000260)	Wide anterior fontanel		55 / 7739
9	(HPO:0000448)	Prominent nose		56 / 7739
10	(HPO:0000322)	Short philtrum		130 / 7739
11	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
12	(HPO:0000490)	Deeply set eye		131 / 7739
13	(HPO:0000426)	Prominent nasal bridge	Very frequent [Orphanet]	121 / 7739
14	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
15	(HPO:0008772)	Aplasia/Hypoplasia of the external ear	Very frequent [Orphanet]	67 / 7739
16	(HPO:0000369)	Low-set ears		372 / 7739
17	(HPO:0005736)	Short tibia		19 / 7739
18	(HPO:0011867)	Abnormality of the wing of the ilium	Frequent [Orphanet]	123 / 7739
19	(HPO:0002974)	Radioulnar synostosis	Frequent [Orphanet]	52 / 7739
20	(HPO:0002991)	Abnormality of the fibula	Frequent [Orphanet]	49 / 7739
21	(HPO:0003038)	Fibular hypoplasia		30 / 7739
22	(HPO:0012165)	Oligodactyly		18 / 7739
23	(HPO:0002997)	Abnormality of the ulna	Frequent [Orphanet]	75 / 7739
24	(HPO:0000954)	Single transverse palmar crease		162 / 7739
25	(HPO:0000912)	Sprengel anomaly	Frequent [Orphanet]	51 / 7739
26	(HPO:0002818)	Abnormality of the radius	Frequent [Orphanet]	96 / 7739
27	(HPO:0009380)	Aplasia of the fingers	Very frequent [Orphanet]	51 / 7739
28	(HPO:0001762)	Talipes equinovarus	Occasional [Orphanet]	309 / 7739
29	(HPO:0006101)	Finger syndactyly	Occasional [Orphanet]	198 / 7739
30	(HPO:0001845)	Overlapping toe		18 / 7739
31	(HPO:0003312)	Abnormal form of the vertebral bodies	Occasional [Orphanet]	172 / 7739
32	(HPO:0005632)	Absent forearm		4 / 7739
33	(HPO:0001511)	Intrauterine growth retardation	Occasional [Orphanet]	358 / 7739
34	(HPO:0004322)	Short stature		1232 / 7739
35	(HPO:0000963)	Thin skin		96 / 7739
36	(HPO:0001814)	Deep-set nails		4 / 7739
37	(HPO:0030680)	Abnormality of cardiovascular system morphology	Frequent [Orphanet]	355 / 7739
38	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
39	(OMIM)	Absent middle phalanx of the 5th finger		1 / 7739
40	(OMIM)	Hypoplastic pelvic girdle		1 / 7739
41	(HPO:0011420)	Death	Very frequent [Orphanet]	184 / 7739
42	(OMIM)	Hypoplastic supra-orbital ridges		1 / 7739
43	(OMIM)	High arch palate		1 / 7739
44	(OMIM)	Absent external auditory meati		1 / 7739
45	(OMIM)	Small auricles		2 / 7739
46	(OMIM)	Valgus		1 / 7739
47	(OMIM)	Hypoplasia of the distal phalanx of the 5th toe		1 / 7739
48	(OMIM)	Hypoplasia of the thenar and hypothenar eminences		1 / 7739
49	(OMIM)	11 rib pairs		1 / 7739
50	(HPO:0002410)	Aqueductal stenosis	Frequent [Orphanet]	19 / 7739
51	(OMIM)	Clinodactyly of the 1st finger		1 / 7739
52	(OMIM)	Short forehead		1 / 7739
53	(HPO:0012443)	Abnormality of brain morphology	Frequent [Orphanet]	45 / 7739
54	(OMIM)	Coronal cleft in C2-C5		1 / 7739
55	(OMIM)	Short proximal arms		1 / 7739
56	(OMIM)	Wide space between the thumbs and the 2nd fingers		1 / 7739
57	(OMIM)	Hypoplastic malar area		1 / 7739
58	(HPO:0001199)	Triphalangeal thumb		56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Rodriguez et al. (1990) described 3 male sibs with a form of acrofacial dysostosis characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulas, microtia, cleft palate, internal organ anomalies including arrhinencephaly and ... Rodriguez et al. (1990) described 3 male sibs with a form of acrofacial dysostosis characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulas, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. All 3 died neonatally from respiratory complications resulting from severe mandibular hypoplasia. The limb deficiencies were predominantly preaxial, and the postaxial limb anomalies were of rare types. They had severe hypoplasia of the shoulder and pelvic girdles, and cardiac and CNS malformations. Rodriguez et al. (1990) suggested that the principal disorders that must be differentiated are Genee-Wiedemann syndrome (263750) and Nager syndrome (154400). Coloboma of the eyelids and accessory nipples, which are features of Genee-Wiedemann syndrome, were not present in the patients reported by Rodriguez et al. (1990). Hecht (1992) suggested that the disorder reported by Hecht et al. (1987) as Nager syndrome might represent this disorder (see 154400). However, Rodriguez et al. (1992) concluded that the sibs reported by Hecht et al. (1987) indeed had Nager syndrome and that important differences distinguished it from Rodriguez lethal acrofacial dysostosis syndrome. Fryns and Kleckowska (1991) described a possible case. Petit et al. (1992) described a lethal case in a female fetus. Wessels et al. (2002) argued that the cases reported by Fryns and Kleckowska (1991) and Petit et al. (1992) did not have Rodriguez lethal acrofacial dysostosis syndrome because they did not have the typical combination of symptoms, including severe phocomelia of the upper limbs, a typical angulated bone in the shoulder, aplasia of the fibulae, and internal anomalies such as abnormal lung lobulation and arrhinencephaly. Wessels et al. (2002) described a case of Rodriguez lethal acrofacial dysostosis syndrome, identified by prenatal ultrasonography at 25 weeks' gestation. The parents of the female fetus were not related. Sermer et al. (2007) reported a male fetus with Rodriguez acrofacial dysostosis in whom the diagnosis was made by prenatal ultrasound. At 22 weeks' gestation, an ultrasound showed absent upper limb and micrognathia. Another ultrasound at 24.1 weeks' gestation showed micrognathia, abnormal nose and maxillae, bilateral short humeri, missing radii and ulnae, 4 digits on each hand, only one long bone in the left calf, a clubbed left foot, and abnormalities of the right metatarsal bones on the right foot. The pregnancy was terminated and the autopsy and the skeletal survey confirmed the diagnosis. The parents were not related.

Symptoms & Signs

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