{"Name":"Richieri Costa-Pereira syndrome","DiseaseID__c":"GARD:0004718","id":4718,"encodedName":"richieri-costa-pereira-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Richieri Costa-Pereira syndrome","Xref_IDs__c":"723998001; C1849348; C535677; MEDGEN:336581; MONDO:0009998; OMIM:268305; ORPHA:3102","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009998","Disease_Description__c":"Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.","GARD_Name__c":"Richieri Costa-Pereira syndrome","GARD_Synonym__c":"richieri costa pereira syndrome; robin sequence with cleft mandible and limb anomalies; robin sequence with cleft mandible and limb anomalies syndrome; short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome; short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome","Curated_Disease_Description_Source__c":"MONDO:0009998","Curated_Disease_Description__c":"Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3102","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009998","ORPHANET_ID__c":"ORPHA:3102","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de richieri costa-pereira","Spanish_Description_Source__c":"ORPHA:3102","Spanish_Description__c":"Es un síndrome caracterizado por talla baja, secuencia de Robin, mandíbula hendida, anomalías pre/postaxiales de la mano (incluyendo pulgares hipoplásicos) y pie zambo. Se ha descrito en 14 familias brasileñas y en un paciente francés no emparentado. También puede asociar orejas prominentes de inserción baja y paladar ojival. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de richieri costa-pereira","Spanish_GARD_Synonym__c":"talla baja-secuencia de pierre robin-fisura maxilar-anomalías de las manos-pie zambo; talla baja-síndrome de pierre robin-fisura maxilar-anomalías de las manos-pie zambo","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009998","GARD_Synonym__c":"richieri costa pereira syndrome; robin sequence with cleft mandible and limb anomalies; robin sequence with cleft mandible and limb anomalies syndrome; short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome; short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome","Name":"Richieri Costa-Pereira syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3102"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3102"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849348"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004718","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/268305","Source__c":"C1849348; MONDO:0009998; ORPHA:3102","Xref__c":"OMIM:268305"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535677","Source__c":"MONDO:0009998","Xref__c":"C535677"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723998001","Source__c":"C1849348; MONDO:0009998","Xref__c":"723998001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849348","Source__c":"C1849348","Xref__c":"C1849348"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336581","Source__c":"C1849348","Xref__c":"MEDGEN:336581"},{"URL__c":"https://www.orpha.net/en/disease/detail/3102","Source__c":"C1849348; MONDO:0009998; ORPHA:3102","Xref__c":"ORPHA:3102"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009998","Source__c":"GARD:0004718","Xref__c":"MONDO:0009998"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EIF4A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010109","HPO_Synonym__c":"Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux","HPO_Name__c":"Short hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment (reduced size) of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005736","HPO_Synonym__c":"Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia","HPO_Name__c":"Short tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Agenesis of lower secondary incisor or lower primary incisor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006355","HPO_Synonym__c":"Failure of development of mandibular central incisor","HPO_Name__c":"Agenesis of mandibular central incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the leg in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004987","HPO_Synonym__c":"Mesomelia of the lower limbs; Mesomelic lower limb shortening","HPO_Name__c":"Mesomelic leg shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000201","HPO_Synonym__c":"Pierre Robin sequence; Pierre-robin anomaly; Pierre-robin deformity; Pierre-robin malformation; Robin sequence","HPO_Name__c":"Pierre-Robin sequence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the aryepiglottic fold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008744","HPO_Synonym__c":"Abnormal aryepiglottic folds; Abnormality of the aryepiglottic fold","HPO_Name__c":"Abnormal aryepiglottic fold morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Midline deficiency of the mandible and some or all overlying tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010752","HPO_Synonym__c":"Cleft lower jaw; Mandibular cleft","HPO_Name__c":"Cleft mandible","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000308","HPO_Synonym__c":"Retromicrognathia; Small retruded chin","HPO_Name__c":"Microretrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001245","HPO_Synonym__c":"Decreased thenar eminence; Hypoplastic thenar eminences; Thenar hypoplasia; Thenar muscle hypoplasia","HPO_Name__c":"Small thenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009237","HPO_Synonym__c":"Fifth finger brachydactyly; Hypoplastic phalanges of the little finger; Hypoplastic/small 5th finger; Hypoplastic/small little finger; Short 5th finger; Short fifth finger; Short fifth fingers; Short little finger; Short phalanges of the little finger; Short pinkie finger; Short pinky finger","HPO_Name__c":"Short 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the arm in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005011","HPO_Synonym__c":"Mesomelia of the upper limbs; Upper limb brachymesomelia","HPO_Name__c":"Mesomelic arm shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000690","HPO_Synonym__c":"Absent upper lateral incisors; Failure of development of maxillary lateral incisor","HPO_Name__c":"Agenesis of maxillary lateral incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200154","HPO_Synonym__c":"Failure of development of mandibular lateral incisor","HPO_Name__c":"Agenesis of mandibular lateral incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Agenesis of premolar tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011051","HPO_Synonym__c":"Agenesis of bicuspid; Failure of development of bicuspid; Failure of development of premolar","HPO_Name__c":"Agenesis of premolar","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the heel bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012789","HPO_Synonym__c":"Hypoplastic calcaneus; Small heel bone; Underdeveloped heel bone","HPO_Name__c":"Hypoplasia of the calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small or absent thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009601","HPO_Synonym__c":"Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Thumb aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term applies if the Epiglottis is absent or hypoplastic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010565","HPO_Name__c":"Aplasia/Hypoplasia of the Epiglottis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; Pulmonary obstruction","HPO_Name__c":"Airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["richieri costa pereira syndrome"," robin sequence with cleft mandible and limb anomalies"," robin sequence with cleft mandible and limb anomalies syndrome"," short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome"," short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome"," short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome"]}