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Noonan-like syndrome with loose anagen hair(NSLH)

MedGen UID:
334697
Concept ID:
C1843181
Disease or Syndrome
Synonyms: NSLH; TOSTI SYNDROME
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): SHOC2 (10q25.2)
OMIM®: 607721
Orphanet: ORPHA2701

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Deep philtrum
MedGen UID:
374311
Concept ID:
C1839797
Finding
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Abnormality of the palate
MedGen UID:
427798
Concept ID:
CN000169
Finding
Any abnormality of the palate, i.e., of roof of the mouth.
Thick lower lip vermilion
MedGen UID:
504381
Concept ID:
CN000174
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Webbed neck
MedGen UID:
504452
Concept ID:
CN000434
Finding
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Posteriorly rotated ears
MedGen UID:
336584
Concept ID:
C1849365
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Hyperactivity
MedGen UID:
504585
Concept ID:
CN000708
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Abnormality of the intervertebral disk
MedGen UID:
446640
Concept ID:
CN004533
Finding
An abnormality of the intervertebral disk.
Abnormality of the elbow
MedGen UID:
447124
Concept ID:
CN008668
Finding
An anomaly of the joint that connects the upper and the lower arm.
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Loose anagen hair
MedGen UID:
767707
Concept ID:
C3554793
Finding
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Abnormal hair quantity
MedGen UID:
489172
Concept ID:
CN167090
Finding
An abnormal amount of hair.
Nasal speech
MedGen UID:
504873
Concept ID:
CN001466
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum.
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Abnormality of the pulmonary artery
MedGen UID:
428461
Concept ID:
CN003909
Finding
An abnormality of the pulmonary artery.
Abnormality of the pulmonary artery
MedGen UID:
428461
Concept ID:
CN003909
Finding
An abnormality of the pulmonary artery.
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Abnormality of the elbow
MedGen UID:
447124
Concept ID:
CN008668
Finding
An anomaly of the joint that connects the upper and the lower arm.

Recent clinical studies

Etiology

Hannig V, Jeoung M, Jang ER, Phillips JA 3rd, Galperin E
Hum Mutat 2014 Nov;35(11):1290-4. Epub 2014 Sep 11 doi: 10.1002/humu.22634. [Epub ahead of print] PMID: 25137548Free PMC Article
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S
Am J Med Genet A 2014 Apr;164A(4):934-42. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36374. [Epub ahead of print] PMID: 24458522
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B
BMC Med Genet 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. [Epub ahead of print] PMID: 24451042Free PMC Article
Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E
Hum Mutat 2012 Apr;33(4):703-9. Epub 2012 Feb 14 doi: 10.1002/humu.22026. [Epub ahead of print] PMID: 22253195Free PMC Article

Diagnosis

Choi JH, Oh MY, Yum MS, Lee BH, Kim GH, Yoo HW
Pediatr Neurol 2015 Mar;52(3):352-5. Epub 2014 Dec 3 doi: 10.1016/j.pediatrneurol.2014.11.017. [Epub ahead of print] PMID: 25563136
Hannig V, Jeoung M, Jang ER, Phillips JA 3rd, Galperin E
Hum Mutat 2014 Nov;35(11):1290-4. Epub 2014 Sep 11 doi: 10.1002/humu.22634. [Epub ahead of print] PMID: 25137548Free PMC Article
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. [Epub ahead of print] PMID: 24458596
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B
BMC Med Genet 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. [Epub ahead of print] PMID: 24451042Free PMC Article
Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A
Am J Med Genet A 2003 Apr 30;118A(3):279-86. doi: 10.1002/ajmg.a.10923. PMID: 12673660

Therapy

Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. [Epub ahead of print] PMID: 24458596
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B
BMC Med Genet 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. [Epub ahead of print] PMID: 24451042Free PMC Article
Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M
Am J Med Genet A 2013 Nov;161A(11):2756-61. Epub 2013 Oct 3 doi: 10.1002/ajmg.a.36255. [Epub ahead of print] PMID: 24124081

Prognosis

Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. [Epub ahead of print] PMID: 24458596

Clinical prediction guides

Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A
Am J Med Genet A 2014 May;164A(5):1218-21. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36404. [Epub ahead of print] PMID: 24458596
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S
Am J Med Genet A 2014 Apr;164A(4):934-42. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36374. [Epub ahead of print] PMID: 24458522
Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M
Am J Med Genet A 2013 Nov;161A(11):2756-61. Epub 2013 Oct 3 doi: 10.1002/ajmg.a.36255. [Epub ahead of print] PMID: 24124081
Harmon RM, Simpson CL, Johnson JL, Koetsier JL, Dubash AD, Najor NA, Sarig O, Sprecher E, Green KJ
J Clin Invest 2013 Apr;123(4):1556-70. Epub 2013 Mar 25 doi: 10.1172/JCI65220. [Epub ahead of print] PMID: 23524970Free PMC Article
Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML
Am J Med Genet A 2011 Jun;155A(6):1217-24. Epub 2011 May 5 doi: 10.1002/ajmg.a.33987. [Epub ahead of print] PMID: 21548061

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