ORPHA:2730 Synonym(s): - Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: Q73.8 OMIM: 176240 UMLS: C1867924 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

The present family may represent a defect in Hox-4 gene patterning of hand and foot formation, an abnormality in morphogen gradient formation or alternately an inability of the most ulnar rays to respond to morphogen (receptor defect). [ncbi.nlm.nih.gov]

Harmon et al. [1995] reported on a fetus of Thai descent, who presented at 20 weeks of gestation with symmetrical terminal transverse limb defects. [updoc.site]

Education & Training Certifications & Licensure American Board of Medical Genetics and Genomics Clinical Genetics American Board of Pediatrics Pediatrics Publications & Presentations PubMed 16 citations Speech characteristics in the Kabuki syndrome. [doximity.com]

• Short Stature

  short stature deafness genital Mental retardation short stature hand contractures genital anomalies Mental retardation short stature heart and skeletal anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly [sosu.us]

  […] hallux Radial bowing Thin ribs Aplasia/hypoplasia of the extremities Slender long bone Hypokinesia Hyperostosis Disproportionate short-limb short stature Flared metaphysis Growth abnormality Redundant skin Cardiac arrest Ankyloglossia Thin clavicles [mendelian.co]

  […] rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal [se-atlas.de]

  Stature-Obesity Syndrome Splenogonadal Fusion Limb Defects Micrognatia split hand-foot malformation + SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY Split-Hand and Split-Foot With Hypodontia Split-Hand with Obstructive Uropathy, Spina Bifida, and [crrd.mcw.edu]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  You can disable or re-enable their contribution in the search results by clicking on them. [playground.phenotips.org]

  Top matches: High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49 EIEE49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability [mendelian.co]

  For further information, see e.g. http://www.wikihow.com/Disable-Cookies. Please be aware that disabling cookies may result in also disabling certain functionality and features of this site, as well as other websites you visit. [varsome.com]

• Pain

  SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD Is also known as syndactyly, malik-percin type, syndactyly, type ix;mssd; syndactyly type 9; syndactyly, malik-percin type Related symptoms: Autosomal recessive inheritance Pain Clinodactyly [mendelian.co]

  Bone 2, Early-Onset; PDB2 OMIM:167250 Paget Disease of Bone 3; PDB3 OMIM:606263 Paget Disease of Bone 4; PDB4 OMIM:239000 Paget Disease of Bone 5, Juvenile-Onset; PDB5 OMIM:616833 Paget Disease of Bone 6; PDB6 OMIM:202660 PAGOD Syndrome OMIM:311400 Paine [informatics.jax.org]

  painful, palagonia, palate, pallidoluysian, pallister, palm, palmaris, palmitoyl, palmo-plantar, palmoplantar, palmoplantar-periodontopathy, palmoplantaris, palsy, pan, pancreas, pancreatic, pancreatitis, pancreatoblastoma, pancytopenia, panencephalitis [rapsodyonline.eurordis.org]

  […] maculaColoboma optic nerveColoboma papillaColoboma porencephaly unilobar lung microphthalmia hearingColonic atresiaColonic cancer Steer Godman Calleja Leno malonic methylmalonic aciduriaCommon variable component Complement receptor canalComplex regional pain [borghesan.com]

• Single Transverse Palmar Crease

  transverse palmar creases partial-complete absence of 5th phalanges absent 5th metacarpal lunate-triquetral fusion Clinical features from OMIM: 176240 Human phenotypes related to Postaxial Oligodactyly, Tetramelic: 59 32 (show all 14) # Description HPO [malacards.org]

  Diseases related with Arthritis and Single transverse palmar crease In the following list you will find some of the most common rare diseases related to Arthritis and Single transverse palmar crease that can help you solving undiagnosed cases. [mendelian.co]

• Inflammation

  […] active EpsteinBarr virus atypical neutrophilic dermatosis with lipodystrophy and elevated demyelinizing neuropathy IgM erosive granulomatous diseaseChronic Infantile Neurological Cutaneous Articular syndromeChronic inflammatory demyelinating lymphocytic inflammation [borghesan.com]

• Vomiting

  […] colitis lethalCutaneous polyarteritis nodosaCutaneous Tcell lymphomaCutis Gyrata Beare StevensonCutis gyratum acanthosis nigricans laxaCutis dominantCutis BCutis marmorata telangiectatica congenitaCutis verticis gyrataCutis Bass Romshe syndromeCyclic vomiting [borghesan.com]

  Cutis laxa, dominant type * Cutis laxa, recessive * Cutis laxa, recessive type 2 * Cutis marmorata telangiectatica congenita * Cutis verticis gyrata * Cutis verticis gyrata mental deficiency * Cutler Bass Romshe syndrome * Cyclic neutropenia * Cyclic vomiting [medicalgeek.com]

• Hirsutism

  Joint hypermobility Scarring Mitral valve prolapse Pica Rheumatoid arthritis Synophrys Cortical diaphyseal thickening of the upper limbs Adermatoglyphia Epidermal acanthosis Hypohidrosis Skin vesicle Macule Sacral dimple Overfolded helix Generalized hirsutism [mendelian.co]

  […] congenital gingival hyperplasia Hirsutism skeletal dysplasia mental retardation His bundle tachycardia Histadelia Histapenia Histidinemia Histidinuria renal tubular defect Histiocytosis X Histiocytosis, Non-Langerhans-Cell Histoplasmosis Histrionic personality [sosu.us]

  […] herpetiformis, herrmann, hersh-podruch-weisskopf, herva, heterotaxia, heterotopia, heterozygous, hexokinase, hht, hibernian, hiccup, hickoc, hid, hidradenitis, high, high-molecular-weight, hillig, hinman, hip, hipopituitarism, hippel-lindau, hirschsprung, hirsutism [rapsodyonline.eurordis.org]

• Brachydactyly

  […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]

  AD Preaxial polydactyly, renal malformation Anonychia-ectrodactyly 106900 AD Anonychia of some digits Anonychiaonychodystrophy with brachydactyly type B and ectrodactyly 106990 AD Brachydactyly, nail dysplasia/ anonychia Brachydactyly-ectrodactyly with [docksci.com]

  Callosum with Facial Anomalies and Robin Sequence Arachnodactyly + Arms, Malformation of Atelosteogenesis Type 3 autosomal recessive Robinow syndrome B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations Bagatelle Cassidy syndrome brachydactyly [crrd.mcw.edu]

  MULTIPLE SYNOSTOSES SYNDROME Is also known as deafness-hermann type symphalangism syndrome; facio-audio-symphalangism; symphalangism-brachydactyly syndrome; wl syndrome Related symptoms: Brachydactyly Conductive hearing impairment Joint stiffness Facial [mendelian.co]

• Hyperactivity

  Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999 ).In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames. [mendelian.co]

  […] hyde-forster-mccarthy-berry, hydradenoma, hydranencephaly, hydrocephalus, hydrocephaly, hydrolase, hydrolethalus, hydromelia, hydrometrocolpos, hydronephrosis, hydrops, hydroxykynureninuria, hydroxylysinuria, hydroxymethylglutaricaciduria, hymenolepiasis, hyper, hyper-igd, hyperactivity [rapsodyonline.eurordis.org]

  Wilson type X-linked intellectual disability, Wittwer type X-linked intellectual disability, Zorick type X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity [se-atlas.de]

• Headache

  […] hand, handmaker, hanot, haque, hard, harding, hardman, hardwick, harlequin, harrod, hartnup, hartsfield, hashimoto, hashomer, haspeslagh-fryns-muelenaere, hauwere-leroy-adriaenssens, hawkins, hawkinsinuria, haworth, hayasaka, hayden, hbv, hcv, head, headache [rapsodyonline.eurordis.org]

  Hartsfield–Bixler–Demyer syndrome Hashimoto struma Hashimoto–Pritzker syndrome Hashimoto's thyroiditis Haspeslagh–Fryns–Muelenaere syndrome Hay–Wells syndrome recessive type Hay–Wells syndrome He Hea–Hei • Hel • Hem • Hen • Hep • Her • Het–Hex Hea–Hei Headache [sosu.us]

• Poor or Absent Speech

  […] or absent speech development (summary by Abou Jamra et al., 2011 ). [mendelian.co]

• Paresthesia

  Trismus Hip contracture Rocker bottom foot Metatarsus adductus Narrow mouth Adducted thumb Knee flexion contracture Congenital hip dislocation Elbow flexion contracture Abnormality of the foot Talipes Arthrogryposis multiplex congenita Hip dislocation Paresthesia [mendelian.co]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The prosthetic treatment of upper limb deficiency. Prosthetics and Orthotics International, 15, 82–87. PubMed Google Scholar Frantz, C. H., & O’Rahilly, R. (1961). Congenital skeletal limb deficiencies. [link.springer.com]

Orthopedic treatment aims at correcting the leg length discrepancy, and, in bilateral cases, correcting the asymmetrical dwarfism. [dysnet.org]

With the experience gained by the prenatal diagnosis and treatment of fetal anemia due to red blood cell isoimmunization, infection with parvovirus B19, and fetal alloimmune thrombocytopenia, intrauterine treatment of fetuses homozygous for a-thalassemia [updoc.site]

Burgess Principal Investigator Melissa Sasara instrument Time Frame Up to year Frequency of curative surgery unresectable lesion becomes Progression free survival From start treatment or death whichever occurs first assessed years Overall Incidence adverse [borghesan.com]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

However, a few cases with hemoglobin Bart disease were born alive [Beaudry et al., 1986; Bianchi et al., 1986; Lam et al., 1992], which suggested that intrauterine blood transfusion might improve their prognosis and avoid intrauterine death. [updoc.site]

The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. [dysnet.org]

The etiology of LSS is unknown. Different modes of inheritance have been suggested. [mendelian.co]

Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A 2011;155A(6):1225–35. 7. Prosthetics and orthotics - Limb deficiencies - Part 1: Method of describing limb deficiencies present at birth. ISO 8548–1:1989. [docksci.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.es]

Fucharoen S, Winichagoon P (1992): Thalassemia in Soust East Asia: problems and strategy for prevention and control. Southeast Asian Tropic Med Publ Hlth 23:647–655. [updoc.site]

Initial calculations were made assuming that II-8 and II-9 were not consanguineous, in order to prevent the lower location scores that would have been obtained because of the limited density and informability of the marker grid in the genome-wide marker [jmg.bmj.com]