Triphalangeal thumb is a rare preaxial deformity with a variety of presentations. Its percentage in the present study was 1.4%. [annsaudimed.net]

Y Diagnosis was present at time of inpatient admission. YES N Diagnosis was not present at time of inpatient admission. NO U Documentation insufficient to determine if the condition was present at the time of inpatient admission. [icdlist.com]

The documents contained in this web site are presented for information purposes only. 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]

In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. [ncbi.nlm.nih.gov]

• Anemia

  Fanconi hypoplastic anemia, see Fanconi anemia Fanconi pancytopenia, see Fanconi anemia Fanconi panmyelopathy, see Fanconi anemia FAP, see familial adenomatous polyposis Farber disease, see Farber lipogranulomatosis Farber lipogranulomatosis Farber’s [mygenomics.com]

  Many of these disorders were found to be of high prevalence and common with other GCC countries, such as sickle cell anemia, thalassemias, G6PD deficiency, Down syndrome, and others. [hmaward.org.ae]

  Fanconi Bickel syndrome Fanconi pancytopenia - See Fanconi anemia Fanconi syndrome Fanconi syndrome with intestinal malabsorption and galactose intolerance - See Fanconi Bickel syndrome Fanconi's anemia - See Fanconi anemia Fantasy Island syndrome - [herenciageneticayenfermedad.blogspot.com]

  […] due to KLF1 mutation Congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type I Congenital dyserythropoietic [csbg.cnb.csic.es]

  Congenital anomaly of limb Congenital splenomegaly Craniofacial deafness hand syndrome Dysplasia of limb Emery Nelson syndrome Feingold syndrome Fryns syndrome Harrod syndrome Hypertelorism Ichthyosis, oral and digital anomalies syndrome Macrocytosis - no anemia [icdlist.com]

• Weakness

  To progress, one needs to identify the areas of one's weakness and to strengthen them. It is well said that "happy beginning is half done" and it fits perfectly with JCDR. [jcdr.net]

  Aminocentesis and livebirth data provide little evidence for a strong "heteroaneuploidy effect" although a weak effect cannot be excluded. Studies in abortions are suggestive of genetic mosaicism in heteroaneuploidy ( Nuzzo, et al, 1975 ). [library.down-syndrome.org]

  […] to partial IRF8 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency MSSE mtDNA deletion syndrome with progressive myopathy mtDNA deletion syndromesyndrome with limb-girdle weakness [csbg.cnb.csic.es]

• Proportionate Short Stature

  Proportionate short stature MedGen UID: 163901 •Concept ID: C0878660 • Finding A kind of short stature in which different regions of the body are shortened to a comparable extent. [ncbi.nlm.nih.gov]

• Partial Alopecia

  Case Reports Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females S A Al-Awadi et al. Am J Med Genet. 1985 Nov. [pubmed.ncbi.nlm.nih.gov]

• Cutis Laxa

  laxa type 1 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2, Debré type Autosomal recessive cutis laxa type 2, progeroid type Autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa with severe [csbg.cnb.csic.es]

• Antimongoloid Slant

  Anomalies are hypertonia, scaphocephaly, prominent occiput, hypertelorism, telecanthus, antimongoloid slanting of the eyes, absent philtrum pillars, characteristic long tapering spindle shaped fingers with adducted thumbs crossing the palm. [nature.com]

  slant of palpebral fissures, ptosis, broad nasal bridge, small nose, anteverted nares, cleft lip, maxillary hypoplasia, changing facial characteristics with age). [lefera.com]

• Sloping Shoulders

  shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow palate wide mouth high-arched palate pouting [malacards.org]

  shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum. [cags.org.ae]

  Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

• Small Hand

  All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. [emro.who.int]

  On examination at birth he showed the typical features of Down syndrome; flat nasal bridge, obligue palpebral fissure, brachycephly, epicanthic folds, small mouth, folded ears, loose skin on the neck, small hands, bilateral clinodactyly, right simian [library.down-syndrome.org]

• Cryptorchidism

  Symptoms via clinical synopsis from OMIM: 56 Head And Neck Eyes: hypertelorism downslanting palpebral fissures wide palpebral fissures Genitourinary External Genitalia Male: inguinal hernia shawl scrotum Genitourinary Internal Genitalia Male: cryptorchidism [malacards.org]

  [from SNOMEDCT_US] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the [ncbi.nlm.nih.gov]

  Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some patients may be subject to a mild neurodevelopmental delay in up to 30% of the cases. [cags.org.ae]

  Hypospadias, inguinal or umbilical hernias, cryptorchidism, and severe craniofacial deformities can be resolved by surgery. [tp.amegroups.com]

• Aura

  […] pancreas Partial androgen insensitivity syndrome Partial androgen resistance syndrome Partial atrioventricular canal Partial chromosome Y deletion Partial congenital cataract Partial deficiency of methylmalonyl-CoA mutase Partial epilepsy with auditory aura [csbg.cnb.csic.es]

Treatment There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. [medigoo.com]

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]

It needs supportive and rehabilitative treatment for various manifestations. Growth hormone therapy helps in augmentation of the short stature. [jmgims.co.in]

[…] population size of the region, the availability of these disorders offers a great opportunity for regional scientists to use related gene data for a better understanding of the function of the human genome and to translate this knowledge into future treatment [hmaward.org.ae]

PMID: 27544718 Prognosis Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. [ncbi.nlm.nih.gov]

… Aarskog-Scott Syndrome (Aarskog's Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. For every purchase made in store or called in between the hours of 11:00 a. [lefera.com]

As prenatal diagnostic techniques improve, so should the timeliness of intervention for many genetic diseases with poor prognosis. [tp.amegroups.com]

The etiology can be divided into environmental and genetic causes. [annsaudimed.net]

The etiology of familial non-disjunction is not well understood. There are several possible explanations for the familial occurrence of aneuploidy. [library.down-syndrome.org]

[from SNOMEDCT_US] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the [ncbi.nlm.nih.gov]

2015/2/4/356/165745 Introduction The etiology of short stature is diverse. It varies from idiopathic to dysmorphic syndromes. Aarskog syndrome (AS) wasfirst reported by Aarskog in 1970. [cjhr.org]

(Etiology) Aarskog Syndrome is an X-linked inherited disorder, caused by a genetic mutation in a gene called FGDY1 (Fascial Genital Dysplasia 1). [lefera.com]

Summary Epidemiology It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. [orpha.net]

Ophthalmic Epidemiology 12(4), 251–257.CrossRefGoogle ScholarPubMed Al-Salem, M. & Rawashdeh, N. (1993) Consanguinity in north Jordan: prevalence and pattern. [cambridge.org]

Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl 1990;7:79-83. 38. Mutton D, Alberman E, Hook EB. Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. [jmedscindmc.com]

"The incidence and epidemiology of congenital upper limb anomalies: a total population study". J Hand Surg [Am]. 2001; 26(4):628-34. 3. Zguricas J, Bakker WF, Heus H, Lindhout D, Heutink P, Hovius SE. [annsaudimed.net]

In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. [order.radboudumc.nl]

Parents often need advice and supportive treatment There is no guaranteed prevention. [medigoo.com]

Heterozygous carriers have to be assessed through a population-based study which would be of great help for future preventive measurements. [emro.who.int]

Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis. [annsaudimed.net]

Centers for Disease Control and Prevention [Learn More] [icdlist.com]