Symptoma

Teebi-Naguib-Al Awadi Syndrome

Aarskog Like Syndrome

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]

  • Inguinal Hernia

    Inguinal hernia MedGen UID: 6817 •Concept ID: C0019294 • Finding An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. [ncbi.nlm.nih.gov]

    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]

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely. [ghr.nlm.nih.gov]

    Secondary criteria include widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and mild interdigital webbing. [jmgims.co.in]

    Secondary criteria include: Widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and mild interdigital webbing. [cjhr.org]

  • 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]

  • 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]

  • 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]

  • Hyperlaxity

    Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy type 1A Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity [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]