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Hoarse cry

MedGen UID:
394791
Concept ID:
C2678303
Finding
HPO: HP:0001615

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHoarse cry

Conditions with this feature

Epidermolysis bullosa simplex 1A, generalized severe
MedGen UID:
38194
Concept ID:
C0079295
Disease or Syndrome
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.
Farber lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Isolated thyroid-stimulating hormone deficiency
MedGen UID:
78786
Concept ID:
C0271789
Disease or Syndrome
A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Laryngo-onycho-cutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is an autosomal recessive disorder characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy (McLean et al., 2003). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.
Hypothyroidism, congenital, nongoitrous, 2
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.

Professional guidelines

PubMed

Maciel LM, Kimura ET, Nogueira CR, Mazeto GM, Magalhães PK, Nascimento ML, Nesi-França S, Vieira SE; Brazilian Society of Endocrinology and Metabolism
Arq Bras Endocrinol Metabol 2013 Apr;57(3):184-92. doi: 10.1590/s0004-27302013000300004. PMID: 23681264

Recent clinical studies

Etiology

Gutiérrez JP, Berkowitz RG, Robertson CF
Pediatr Pulmonol 1999 Apr;27(4):282-5. doi: 10.1002/(sici)1099-0496(199904)27:4<282::aid-ppul10>3.0.co;2-g. PMID: 10230929

Diagnosis

Shehee L, Downs J, Clemmens C
BMJ Case Rep 2020 Nov 9;13(11) doi: 10.1136/bcr-2020-237143. PMID: 33168534Free PMC Article
Sriwastava S, Desai A, Yuliati A, Watson CR, Sivaswamy L
Pediatr Neurol 2018 Oct;87:78-79. Epub 2018 Aug 22 doi: 10.1016/j.pediatrneurol.2018.08.013. PMID: 30501889
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Gutiérrez JP, Berkowitz RG, Robertson CF
Pediatr Pulmonol 1999 Apr;27(4):282-5. doi: 10.1002/(sici)1099-0496(199904)27:4<282::aid-ppul10>3.0.co;2-g. PMID: 10230929
Grundfast KM, Harley E
Otolaryngol Clin North Am 1989 Jun;22(3):569-97. PMID: 2657584

Therapy

Maciel LM, Kimura ET, Nogueira CR, Mazeto GM, Magalhães PK, Nascimento ML, Nesi-França S, Vieira SE; Brazilian Society of Endocrinology and Metabolism
Arq Bras Endocrinol Metabol 2013 Apr;57(3):184-92. doi: 10.1590/s0004-27302013000300004. PMID: 23681264
Forbes E, Patel N, Kasem K
J Perinatol 2010 Aug;30(8):563-5. doi: 10.1038/jp.2009.180. PMID: 20668465
Bostanci I, Sarioģlu A, Ergin H, Akşit A, Cinbiş M, Akalin N
J Pediatr Endocrinol Metab 2001 Sep-Oct;14(8):1161-2. doi: 10.1515/jpem-2001-0815. PMID: 11592576
Mercado M, Szymonowicz W, Yu VY, Gold H
Clin Pediatr (Phila) 1987 Jul;26(7):343-6. doi: 10.1177/000992288702600704. PMID: 2885121

Prognosis

Diociaiuti A, Giancristoforo S, Pisaneschi E, Condorelli AG, Boldrini R, Zambruno G, El Hachem M
Pediatr Dermatol 2020 Mar;37(2):393-395. Epub 2020 Jan 19 doi: 10.1111/pde.14105. PMID: 31957133
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N
Am J Med Genet A 2013 Dec;161A(12):2972-80. Epub 2013 Nov 8 doi: 10.1002/ajmg.a.36229. PMID: 24214728
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Tahirović H, Toromanović A
Bosn J Basic Med Sci 2005 Nov;5(4):26-9. doi: 10.17305/bjbms.2005.3226. PMID: 16351594Free PMC Article
Levade T, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R
J Neurol Sci 1995 Dec;134(1-2):108-14. doi: 10.1016/0022-510x(95)00231-0. PMID: 8747852

Clinical prediction guides

Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA
Br J Dermatol 1997 Dec;137(6):898-906. PMID: 9470905

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