Paula and Bobby
Parents of Lillie
Acrofacial Dysostosis syndrome of Rodriguez
What is Acrofacial Dysostosis syndrome of Rodriguez?
Acrofacial Dysostosis syndrome of Rodriguez is a rare disease. It is also known as Madrid form of acrofacial dysostosis Rodriguez Lethal Acrofacial Dysostosis Syndrome Rodriguez syndrome.
Rodriguez et al., (1990) described three male sibs with a severe form of acrofacial dysostosis, congenital heart defects and other internal anomalies. There was severe shortening of the arms in two of the sibs with oligodactyly and hypoplasia of the scapulae. One of these sibs had absent fibulae and ischiae, but defects of the legs were not recorded in the second. The third sib had less severe, predominantly preaxial limb defects and resembled the case reported by Fryns and Kleckowska (1991), although Rodriguez and Palacios (1992) later disagreed with this. A further affected female was reported by Petit et al., (1992) and Hecht (1992) pointed out that two sibs she reported (Hecht et al., 1987) most likely had this condition. Additional features of the condition are CNS malformations (hydrocephalus, agenesis of the corpus callosum), absent lung lobation and small kidneys. It seems likely that these cases represent yet another variant of acrofacial dysostosis. Preis et al., (1995) reported a 37-week, stillborn female infant with similar features, Wessels et al., (2002) reported a prenatal diagnosis and postnatal confirmation, and very probably the specimen from the Vrolik museum in Amsterdam had the same entity (Oostra et al., 1998; Fryns 1999).
Dimitrov et al., (2005) reported another case and provide a useful review.
McPhearson et al., (2014) reported a case with a SF3B4 mutation - the same as found in Nager syndrome raising the possibility that Rodriguez syndrome is but a severe form of Nager syndrome. Note that Rodriguez was thought to be recessive.
Marques et al. (2016) identified heterozygosity for SF3B4 mutations in Rodriguez type acrofacial dysostosis, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. Prenatal ultrasound of the fetus at 29 weeks gestation revealed SGA, microcephaly, severe retrognathia, severely shortened and malformed appendicular bones, oligodactyly with preaxial polydactyly, coarctation of the aorta and polyhydramnios. The newborn survived for one hour. Postnatal findings showed multiple craniofacial and distal limb abnormalities including hypertelorism, bilateral microtia, severe micrognathia, severe rhizomelia, mesomelia and oligodactyly with duplication of the thumb. Radiographs demonstrated handlebar clavicles, small scapulae, hypoplastic humeri, humeroradial synostosis, absent pubis bone, malformed radii, absent ulnae, absent fibulae and oligodactyly with preaxial polydactyly. Two other reported patients were twins - both exhibited microcephaly, micrognathia and significant shortening of the appendicular bones. The pregnancy was interrupted; postmortem findings confirmed facial dysmorphisms, bilateral microtia, severe micrognathia, and pes equinovarus. Radiographic abnormalities included small scapulae, hypoplasia of the radii and thumbs in both twins, oligodactyly in one twin, and cervical vertebral and rib anomalies in the other twin. The clinical findings for the twin probands were overall less severe than usually observed in Rodriguez syndrome, but more severe than expected for Nager syndrome.
Irving et al. (2016) identified de novo heterozygous frameshift mutations in the SF3B4 gene in three fetuses. The fetuses had upper limb phocomelia, cleft palate, severe micrognathia and lung hypoplasia. One fetus showed a congenital heart disease.
* This information is courtesy of the L M D.
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What gene changes cause Acrofacial Dysostosis syndrome of Rodriguez?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 201170 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
SF3B4 - 1q21.2
What are the main symptoms of Acrofacial Dysostosis syndrome of Rodriguez?
The typical symptoms of the syndrome are:
Finger syndactyly, Fibular hypoplasia, Prominent nose, Malformation of the heart and great vessels, Sprengel anomaly, Deeply set eye, Split hand, Low-set ears, Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Abnormal form of the vertebral bodies, Micrognathia, Narrow mouth, Absent forearm, Triphalangeal thumb, Abnormality of fibula morphology, Wide nasal bridge, Abnormality of pelvic girdle bone morphology, Abnormality of the outer ear, Aplasia/Hypoplasia of the radius, Absent toe, Aqueductal stenosis, Short stature, Prominent nasal bridge, Holoprosencephaly, Short tibia, Hypoplasia of the zygomatic bone, Hypertelorism, Short philtrum, Talipes equinovarus, Deep-set nails, Talipes, Radioulnar synostosis, Renal hypoplasia/aplasia, Posteriorly rotated ears, Autosomal recessive inheritance, Wide anterior fontanel, Overlapping toe, Thin skin, Single transverse palmar crease
How does someone get tested for Acrofacial Dysostosis syndrome of Rodriguez?
The initial testing for Acrofacial Dysostosis syndrome of Rodriguez can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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