Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip).
Gurrieri et al. (2001) reported a brother and sister with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly.
Description The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (summary by Zaki et al., 2011). Clinical Features Zaki et al. (2011) reported a consanguineous Egyptian family in which 3 sibs and a first cousin had a syndromic disorder apparent at birth and characterized by profound mental retardation, severe microcephaly (-8 to -11 SD), poor growth, dysmorphic facial features, cerebellar hypoplasia, and second-degree atrioventricular heart block.
Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability.
Intellectual disability-severe speech delay-mild dysmorphism syndrome , also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech.
A number sign (#) is used with this entry because mental retardation with language impairment and with or without autistic features is caused by heterozygous mutation in the FOXP1 gene (605515) on chromosome 3p13. Description Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems.
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. ... Other features are variable with no striking common phenotypic features. Etiology This microduplication syndrome was identified by microarray-based comparative genomic hybridization (aCGH).
A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome. A locus for autism-7 (AUTS7; 610676) has been mapped to chromosome 17q21. See also chromosome 17q21.31 deletion syndrome (610443). Clinical Features Kirchhoff et al. (2007) reported a 10-year-old Moroccan girl with severe psychomotor delay who was found to have a de novo duplication at the chromosome 17q21.31 deletion syndrome locus.
Piriformis syndrome is a rare neuromuscular condition that occurs when the piriformis muscle in the buttocks presses on the sciatic nerve . The condition is primarily associated with sciatica ; however, other symptoms may include tenderness, aching, tingling and/or numbness of the buttock and pain when sitting for a long period of time, climbing stairs, walking or running. Piriformis syndrome is caused by damage, irritation or overuse of the piriformis muscle which can make the muscle swell or tighten.
TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy).
A number sign (#) is used with this entry because of evidence that infantile hypotonia with psychomotor retardation and characteristic facies-3 (IHPRF3) is caused by homozygous or compound heterozygous mutation in the TBCK gene (616899) on chromosome 4q24. Description Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419). Clinical Features Chong et al. (2016) reported 5 children from 4 unrelated families with profound developmental disability with little progression beyond infancy, and severe hypotonia resulting in respiratory insufficiency and feeding tube placement.
Pseudomonas hot-foot syndrome Specialty Dermatology Pseudomonas hot-foot syndrome is a self-limited cutaneous condition that occurs on the plantar surface of children after swimming in pool water that has high concentrations of P. aeruginosa . [1] [2] The condition typically presents as plantar purple-red nodules. [3] See also [ edit ] Pseudomonal pyoderma List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A number sign (#) is used with this entry because of evidence that a syndrome of cleft palate, psychomotor retardation, and distinctive facial features is caused by heterozygous mutation in the KDM1A gene (609132) on chromosome 1p36. ... Molecular Genetics In a patient with global developmental delay and clinical features overlapping those of KBG (148050) and Kabuki (see 147920) syndromes, Tunovic et al. (2014) detected heterozygosity for 2 sequence variants. ... Out-of-frame deletions in this gene cause the KBG syndrome. The second was a missense substitution in the KDM1A gene, tyr785 to his (Y785H; 609132.0001).
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy.
A number sign (#) is used with this entry because of evidence that X-linked syndromic mental retardation-34 (MRXS34) is caused by mutation in the NONO gene (300084) on chromosome Xq13. Description X-linked syndromic mental retardation-34 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015). Clinical Features Mircsof et al. (2015) reported 3 unrelated males, aged 15 to 20 years, with syndromic form of intellectual disability.
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor.
A number sign (#) is used with this entry because of evidence that a syndrome of global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) is caused by postzygotic mutation, resulting in somatic mosaicism, in the DICER1 gene (606241) on chromosome 14q31.
Mal de debarquement syndrome is a neurological disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. ... Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications.
Mal de debarquement Other names Illness of disembarkment [1] Mal de debarquement (or mal de débarquement ) syndrome ( MdDS , or common name disembarkment syndrome ) is a neurological condition usually occurring after a cruise, aircraft flight, or other sustained motion event. ... Vestibular therapy has not proved to be effective in treating MdDS. [4] Additional research is being undertaken into the neurological nature of this syndrome through imaging studies . Many sufferers of this syndrome have found relief by taking histamine blockers or antihistamines (Benadryl for instance). ... PMID 23111933 . ^ a b Hain, Timothy C. "Mal de Debarquement Syndrome (MdDS or MdDS)" . dizziness-and-balance.com . ... "Clinical features and associated syndromes of mal de debarquement" . Journal of Neurology . 255 (7): 1038–44. doi : 10.1007/s00415-008-0837-3 . ... "Readaptation of the vestibulo-ocular reflex relieves the mal de debarquement syndrome" . Front Neurol . 5 : 124. doi : 10.3389/fneur.2014.00124 .
Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.
They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome , Chediak-Higashi syndrome , thrombocytopenia-absent radius (TAR) syndrome , and Wiskott-Aldrich syndrome .
In addition to the more frequently occurring disorders of dense granules only (delta-SPD), 2 disorders involving alpha-granule deficiencies have been characterized: alpha/delta-SPD, which includes patients with marked deficiencies of dense granules as well as more variable deficiencies of alpha-granules; and alpha-SPD, or the gray platelet syndrome (139090), in which severe reductions occur only in the alpha-granules and their contents. ... In 7 patients with albinism (Hermansky-Pudlak syndrome; 203300) and in 4 other unrelated patients, they found a deficiency of dense granules and dense granule substances. ... INHERITANCE - Autosomal dominant HEMATOLOGY - Mild-moderate prolonged bleeding time - Decreased platelet aggregation - Mild-moderate bleeding tendencies - Absent platelet dense bodies - Small platelets - Impaired release of platelet adenosine diphosphate (ADP) LABORATORY ABNORMALITIES - Mild-moderate prolonged bleeding time - Decreased platelet aggregation MISCELLANEOUS - Syndromic forms of dense granule only platelet storage pool deficiencies (delta-SPD) include Hermansky-Pudlak syndrome ( 203300 ) and Chediak-Hygashi syndrome ( 214500 ) - Aquired delta-SPD seen in myeloproliferative disorders, myelodysplasia, and acute leukemia ▲ Close
A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.
SNARE accessory proteins control the secretion of α–granule. [5] Diagnosis [ edit ] The diagnosis of this condition can be done via the following: [1] Flow cytometry Bleeding time analysis Types [ edit ] This condition may involve the alpha granules or the dense granules. [6] Therefore the following examples include: Flow cytometry analysis Platelet alpha-granules Gray platelet syndrome [7] Quebec platelet disorder [8] Dense granules δ-Storage pool deficiency [9] Hermansky–Pudlak syndrome [10] Chédiak–Higashi syndrome [11] Treatment [ edit ] Platelet storage pool deficiency has no treatment however management consists of antifibrinolytic medications if the individual has unusual bleeding event, additionally caution should be taken with usage of NSAIDS [1] [2] See also [ edit ] Hypocoagulability Hypercoagulability References [ edit ] ^ a b c d e f g h i j "Platelet storage pool deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... Retrieved 2 November 2010 . ^ Reserved, Inserm US14 -- All Rights. "Orphanet: Gray platelet syndrome" . www.orpha.net . Retrieved 2017-10-29 . ^ "OMIM Entry - # 601709 - Quebec Platelet Disorder" . www.omim.org . ... ISBN 978-0-07-162151-9 ^ Huizing, Marjan; Malicdan, May Christine V.; Gochuico, Bernadette R.; Gahl, William A. (1993). "Hermansky-Pudlak Syndrome" . In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). ... PMID 20301464 . update 2017 ^ Reserved, INSERM US14 -- All Rights. "Orphanet: Chédiak Higashi syndrome" . www.orpha.net . Retrieved 29 October 2017 . ... External links [ edit ] PubMed Classification D ICD - 10 : D69.1 OMIM : 185050 MeSH : D010981 Scholia has a topic profile for Platelet storage pool deficiency . v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythaemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Haemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Haematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Haemoptysis Intracranial haemorrhage Hyphaema Subconjunctival haemorrhage torso Haemothorax Haemopericardium Pulmonary haematoma abdomen Gastrointestinal bleeding Haemobilia Haemoperitoneum Haematocele Haematosalpinx joint Haemarthrosis v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
Description Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. ... For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (252900). ... Minelli et al. (1988) made the prenatal diagnosis of Sanfilippo syndrome B by chorionic villus sampling. ... Two families were from Okinawa, where more patients with Sanfilippo syndrome were found than in other areas in Japan. ... Population Genetics In series of cases of Sanfilippo syndrome collected in most parts of the world, type A is more frequent than type B.
Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition.
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.
A number sign (#) is used with this entry because of evidence that CLAPO syndrome is caused by somatic mutation of the PIK3CA (171834) gene on chromosome 3q26. Clinical Features Lopez-Gutierrez and Lapunzina (2008) described 6 unrelated patients with an apparently distinct syndrome of capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial/generalized overgrowth.
Schöpf–Schulz–Passarge syndrome Other names Eyelid cysts, Palmoplantar keratoderma, Hypodontia, and Hypotrichosis Specialty Medical genetics Schöpf–Schulz–Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma , with the keratoderma and fragility of the nails beginning around age 12. [1] : 513 [2] In addition to palmoplantar keratoderma, other symptoms include hypodontia , hypotrichosis , nail dystrophies, and eyelid cysts ( apocrine hidrocystomas ). Patients may also develop syringofibroadenoma and squamous cell carcinomas . [3] It was characterized in 1971. [4] It has been associated with WNT10A . [5] See also [ edit ] Palmoplantar keratoderma List of cutaneous conditions List of dental abnormalities associated with cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes References [ edit ] ^ Freedberg, et al. (2003). ... Elsevier/Saunders. ^ Schöpf E, Schulz HJ, Passarge E (June 1971). "Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait".
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
A number sign (#) is used with this entry because of evidence that Schopf-Schulz-Passarge syndrome (SSPS) is caused by homozygous mutation in the WNT10A gene (606268) on chromosome 2q35. ... However, whereas Schopf et al. (1971) thought that their patients might have Papillon-Lefevre syndrome (245000), Font et al. (1986) concluded that both families had a separate disorder, which is distinguished by the occurrence of apocrine hidrocystomas of the eyelid margins. ... They further identified a total of 19 subtypes, the Schopf-Schultz-Passarge syndrome being type XIX. Gorlin (1997) concluded that eccrine tumors with ectodermal dysplasia as described by Nordin et al. (1988) is in fact Schopf syndrome. ... Craigen et al. (1997) stated that 10 cases of this syndrome had been reported; all were compatible with autosomal recessive inheritance except for the family reported by Kuster and Hammerstein (1992), which exhibited dominant inheritance. They reported a family in which 3 full sibs and 1 half sib, all males, had Schopf-Schultz-Passarge syndrome. The half sibs shared a father.
A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia. Epidemiology Feingold syndrome type 2 (FS2) is extremely rare with less than 20 patients described in the literature to date. ... Etiology FS2 is thought to be caused by a hemizygous deletion in the MIR17HG gene on chromosome 13q31.3. This is the first example of a syndromic development deficit in humans that is caused by a miRNA gene. ... Differential diagnosis Differential diagnosis of FS2 includes FS type 1 (FS1), VACTERL association, CHARGE syndrome, brachydactyly type A4 and Fanconi anemia.
A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis. Epidemiology Christianson syndrome (CS) prevalence is estimated to affect 1 in 16,000 to 100,00 males worldwide. ... Secondary symptoms include behaviors associated with autism, Angelman syndrome features, eye movement problems (e.g. strabismus), hypotonia, gastroesophageal reflux disease (GERD), regressions (especially after the 1st decade of life), low height and/weight (progressing with age), and cerebellar vermal atrophy (particularly after the 1st decade). Females with heterozygous NHE6 mutations may present with a wide ranging phenotype ranging from unaffected to more severe neurologic/psychiatric manifestations. Etiology Christianson syndrome is caused by loss-of-function mutation of the SLC9A6 gene (Xq26.3), which encodes the endosomal Na+/H+ Exchanger 6 (NHE6) protein. ... Differential diagnosis Differential diagnoses include Angelman syndrome and ID (especially if it appears to follow an X-linked pattern).
A number sign (#) is used with this entry because the Christianson type of X-linked syndromic mental retardation (MRXSCH) is caused by mutation in the SLC9A6 gene (300231) on chromosome Xq26. Some clinical features of this disorder show overlap with Angelman syndrome (AS; 105830). Description Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. ... Gilfillan et al. (2008) noted that the phenotype in all families was similar to that of Angelman syndrome. Schroer et al. (2010) reported a large family in which 6 males had Christianson syndrome confirmed by genetic analysis (R468X; 300231.0002). ... More than one-third of patients (43%) were originally diagnosed clinically with Angelman syndrome because of movement or balance disorders, lack of speech, mental retardation, a happy demeanor, and unprovoked laughter. ... Fichou et al. (2009) did not find any unambiguous pathogenic mutations in the SLC9A6 gene among 59 unrelated boys with a diagnosis consistent with Angelman syndrome who did not have known molecular anomalies, suggesting that mutations in this gene are not a common cause of Angelman syndrome.
Note: Absence of a known family history of autosomal dominant Robinow syndrome does not preclude the diagnosis. ... A distinguishing feature of ROR2 -related Robinow syndrome is clefting of the distal phalanges, mainly of the thumbs. ... The vertebral abnormalities and delayed teeth eruption of ADRS are not observed in Aarskog syndrome. Typical limb abnormalities in Aarskog syndrome include brachydactyly, syndactyly, and fifth-finger clinodactyly. Autosomal dominant Opitz G/BBB syndrome (ADOS) and X-linked Opitz G/BBB syndrome (XLOS) are associated with deletion in 22q11.2 and mutation of MID1 , respectively. ... Given the phenotypic overlap between omodysplasia type 2 and Robinow syndrome, some have postulated that this may actually fall into the clinical spectrum of Robinow syndrome with predominant short humeri and radial head dislocation.