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]

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 primary criteria include those manifestations that are consistently present in more than 80% of patients, and the secondary criteria are those that are present in 50–70% of patients. [cjhr.org]

Primary criteria include those manifestations that are consistently present in more than 80% of the patients and the secondary criteria are those that are present in 50-70% of patients. [jmgims.co.in]

• Infertility

  Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [ncbi.nlm.nih.gov]

  […] associated with large-headed multiflagellar polyploid spermatozoa Male infertility due to NANOS1 mutation Male infertility with normal virilization due to maturation arrest Male infertility with normal virilization due to meiosis defect Male pseudohermaphroditism [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]

• Malocclusion

  […] posteriorly rotated ears small ears abnormal auricles hearing loss (rare) Skeletal Hands: camptodactyly hyperextensible hand joints mild syndactyly fifth finger clinodactyly interdigital webbing more Head And Neck Neck: long neck Head And Neck Teeth: malocclusion [malacards.org]

  Dental malocclusion MedGen UID: 9869 •Concept ID: C0024636 • Anatomical Abnormality An inherited or acquired dental abnormality characterized by improper alignment of the teeth. [ncbi.nlm.nih.gov]

  The primary diagnostic criteria [1] include short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with [jmgims.co.in]

  The primary diagnostic criteria [1] includes short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with [cjhr.org]

• Trismus

  […] peak coarse, dry scalp hair hypopigmented scalp hair Head And Neck Nose: anteverted nostrils high nasal bridge short, stubby nose Neurologic Central Nervous System: normal intelligence mental retardation (rare) central facial nerve paralysis (rare) trismus [malacards.org]

  Trismus MedGen UID: 21671 •Concept ID: C0041105 • Disease or Syndrome Lack of ability to open the mouth fully due to decreased range of motion of the muscles of mastication. It may be a symptom of tetanus. [ncbi.nlm.nih.gov]

  Cardiomyopathy with myopathy due to COX deficiency Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia Cardiovascular Gaucher disease Carmi syndrome Carney complex Carney complex variant Carney complex-trismus-pseudocamptodactyly [csbg.cnb.csic.es]

• High Arched Palate

  External Features: sloping 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 [malacards.org]

  A high arched palate was observed with palatal positioning of second premolars [Table/Fig-6]. The maxillary central incisors were macrodontic with altered morphology and diastema [Table/Fig-7]. [jcdr.net]

• Abnormal Teeth

  teeth Chest External Features: sloping 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 [malacards.org]

• Hearing Impairment

  Posteriorly rotated ears MedGen UID: 96566 •Concept ID: C0431478 • Congenital Abnormality Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A general term for the complete or partial loss of the ability to hear from one [ncbi.nlm.nih.gov]

  impairment Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage myopathy [csbg.cnb.csic.es]

• 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]

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

• Joint Dislocation

  dislocations, CHST3 type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with snail-like pelvis Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodystrophia calcificans congenita Chondroectodermal dysplasia Chondrosarcoma [csbg.cnb.csic.es]

• Pollakisuria

  Pollakisuria MedGen UID: 52942 •Concept ID: C0042023 • Finding Increased frequency of urination. Shawl scrotum MedGen UID: 388088 •Concept ID: C1858539 • Congenital Abnormality Superior margin of the scrotum superior to the base of the penis. [ncbi.nlm.nih.gov]

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]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [lefera.com]

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

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention [Learn More] [icdlist.com]

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]

[…] scramblase (protein that Scott-Taor syndrome symptoms, causes, diagnosis, and treatment information for Scott-Taor syndrome (Ischiopatellar dysplasia) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis [lefera.com]

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

[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]

Available from: 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]

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

"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]

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

Baratela-Scott Syndrome: Read more about symptoms, causes, diagnosis, tests, types, drugs, treatments, prevention, and more information. 222. [lefera.com]

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