XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.



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2nd-5th toe middle phalangeal hypoplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
HOXD132q31.1100%gene with protein product142989HOX4I, SPD2-3 toe syndactyly; 2nd-5th toe middle phalangeal hypoplasia; 3-4 finger syndactyly; 3-4 toe syndactyly; 4-5 toe syndactyly; 6 metacarpals; Abnormal cardiac septum morphology; Abnormal vertebral morphology; Abnormality of the nasopharynx; Abnormality of the ribs; Abnormality of the sternum; Absent distal interphalangeal creases; Absent radius; Anal atresia; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Brachydactyly; Broad distal phalanx of the hallux; Broad distal phalanx of the thumb; Broad hallux; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Choanal atresia; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Contracture of the proximal interphalangeal joint of the 5th finger; Cutaneous finger syndactyly; Ectopic kidney; Enlarged proximal interphalangeal joints; Esophageal atresia; Failure to thrive; Finger syndactyly; Fused fourth and fifth metacarpals; Hallux valgus; Hydronephrosis; Hypoplasia of the radius; Hypospadias; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Large fontanelles; Laryngeal stenosis; Laryngomalacia; Mesoaxial hand polydactyly; Metacarpal synostosis; Metatarsal synostosis; Moderately short stature; Multiple impacted teeth; Occipital encephalocele; Oligodactyly; Patent ductus arteriosus; Patent urachus; Polyhydramnios; Postaxial foot polydactyly; Postnatal growth retardation; Preaxial polydactyly; Premature birth; Radioulnar synostosis; Renal agenesis; Renal dysplasia; Round face; Scoliosis; Short 5th metacarpal; Short clavicles; Short distal phalanx of finger; Short fifth metatarsal; Short metacarpal; Short metatarsal; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short stature; Short thumb; Single umbilical artery; Spina bifida; Sporadic; Straight clavicles; Symphalangism affecting the phalanges of the hand; Syndactyly; Tethered cord; Tetralogy of Fallot; Toe syndactyly; Tracheal stenosis; Tracheoesophageal fistula; Transposition of the great arteries; Triphalangeal thumb; Type D brachydactyly; Type E brachydactyly; Ulnar deviation of finger; Ureteropelvic junction obstruction; Ventricular septal defect; Vertebral segmentation defect; Vesicoureteral reflux; Y-shaped metacarpalsHeterotaxy ; VACTERL Association
ROR29q22.31100%gene with protein product602337NTRKR2, BDB, BDB12nd-5th toe middle phalangeal hypoplasia; Absent fingernail; Absent uvula; Ankyloglossia; Anonychia; Anteverted nares; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the distal phalanges of the toes; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad hallux phalanx; Broad thumb; Broad toe; Camptodactyly; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Delayed cranial suture closure; Delayed eruption of permanent teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Disproportionate short-limb short stature; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Elbow dislocation; Epicanthus; Fingernail dysplasia; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hearing impairment; Hemivertebrae; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic female external genitalia; Hypoplastic fingernail; Hypoplastic labia majora; Hypoplastic sacrum; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Kyphosis; Long eyelashes; Long palpebral fissure; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malar flattening; Mesomelia; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Proptosis; Radial deviation of finger; Renal duplication; Rib fusion; Right ventricular outlet obstruction; Scoliosis; Short distal phalanx of finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short nose; Short palm; Syndactyly; Tented upper lip vermilion; Thin upper lip vermilion; Thoracic hemivertebrae; Thoracolumbar scoliosis; Triangular mouth; Type B brachydactyly; Umbilical hernia; Upslanted palpebral fissure; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Wide anterior fontanel; Wide mouth; Wide nasal bridgeDisorders of Sex Development

The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome