U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
Synonyms: SADDAN dysplasia; Severe achondroplasia with developmental delay and acanthosis nigricans; Skeleton skin brain syndrome; SSB syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): FGFR3 (4p16.3)
 
Monarch Initiative: MONDO:0014658
OMIM®: 616482
Orphanet: ORPHA85165

Definition

SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.\n\nAll people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood. [from MedlinePlus Genetics]

Clinical features

From HPO
Mesomelia
MedGen UID:
107808
Concept ID:
C0549306
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Megalencephaly
MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Central apnea
MedGen UID:
854403
Concept ID:
C3887548
Disease or Syndrome
Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Acanthosis nigricans
MedGen UID:
54
Concept ID:
C0000889
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Redundant skin
MedGen UID:
154379
Concept ID:
C0581342
Pathologic Function
Loose and sagging skin often associated with loss of skin elasticity.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere achondroplasia-developmental delay-acanthosis nigricans syndrome
Follow this link to review classifications for Severe achondroplasia-developmental delay-acanthosis nigricans syndrome in Orphanet.

Recent clinical studies

Etiology

Wang J, Lin H, Chiavaroli V, Jin B, Yuan J, Huang K, Wu W, Dong G, Derraik JGB, Fu J
Front Endocrinol (Lausanne) 2022;13:807380. Epub 2022 May 19 doi: 10.3389/fendo.2022.807380. PMID: 35663319Free PMC Article
de Planque CA, Wall SA, Dalton L, Paternoster G, Arnaud É, van Veelen MC, Versnel SL, Johnson D, Jayamohan J, Mathijssen IMJ
J Neurosurg Pediatr 2021 Aug 13;28(4):425-431. doi: 10.3171/2021.2.PEDS20933. PMID: 34388723
Al-Kandari H, Al-Abdulrazzaq D, Al-Jaser F, Al-Mulla F, Davidsson L
Prim Care Diabetes 2021 Feb;15(1):175-177. Epub 2020 Aug 23 doi: 10.1016/j.pcd.2020.07.012. PMID: 32843252
Ice CL, Murphy E, Minor VE, Neal WA
World J Pediatr 2009 Feb;5(1):23-30. Epub 2009 Jan 27 doi: 10.1007/s12519-009-0004-7. PMID: 19172328
Muñoz-Pérez MA, Camacho F
J Eur Acad Dermatol Venereol 2001 Jul;15(4):325-7. PMID: 11730043

Diagnosis

Zhou Q, Yu J, Yuan X, Wang C, Zhu Z, Zhang A, Gu W
Front Endocrinol (Lausanne) 2021;12:606964. Epub 2021 Apr 29 doi: 10.3389/fendo.2021.606964. PMID: 33995269Free PMC Article
Jin J, Liang X, Wei J, Xu L
Biomed Res Int 2021;2021:8878149. Epub 2021 Feb 25 doi: 10.1155/2021/8878149. PMID: 33728347Free PMC Article
Aghababaie AS, Ford-Adams M, Buchanan CR, Arya VB, Colclough K, Kapoor RR
J Pediatr Endocrinol Metab 2020 May 22;33(6):809-812. doi: 10.1515/jpem-2019-0503. PMID: 32441669
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM
Am J Med Genet A 2017 Apr;173(4):1097-1101. Epub 2017 Feb 9 doi: 10.1002/ajmg.a.38141. PMID: 28181399
Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P
Clin Genet 2007 Nov;72(5):405-10. doi: 10.1111/j.1399-0004.2007.00884.x. PMID: 17935505

Therapy

Jin J, Liang X, Wei J, Xu L
Biomed Res Int 2021;2021:8878149. Epub 2021 Feb 25 doi: 10.1155/2021/8878149. PMID: 33728347Free PMC Article
Majore S, Agolini E, Micale L, Pascolini G, Zuppi P, Cocciadiferro D, Morlino S, Mattiuzzo M, Valiante M, Castori M, Novelli A, Grammatico P
Clin Genet 2021 Apr;99(4):540-546. Epub 2021 Jan 13 doi: 10.1111/cge.13911. PMID: 33372278
Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT
J Clin Endocrinol Metab 2009 Oct;94(10):3959-63. Epub 2009 Jul 21 doi: 10.1210/jc.2009-0322. PMID: 19622626
Valizadeh N, Tehrani MR, Amoli MM, Bandarian F
J Pediatr Endocrinol Metab 2008 Nov;21(11):1027-8. doi: 10.1515/jpem.2008.21.11.1027. PMID: 19189695
Fareau GG, Maldonado M, Oral E, Balasubramanyam A
Metabolism 2007 May;56(5):670-5. doi: 10.1016/j.metabol.2006.12.016. PMID: 17445543

Prognosis

de Planque CA, Wall SA, Dalton L, Paternoster G, Arnaud É, van Veelen MC, Versnel SL, Johnson D, Jayamohan J, Mathijssen IMJ
J Neurosurg Pediatr 2021 Aug 13;28(4):425-431. doi: 10.3171/2021.2.PEDS20933. PMID: 34388723
Zhou Q, Yu J, Yuan X, Wang C, Zhu Z, Zhang A, Gu W
Front Endocrinol (Lausanne) 2021;12:606964. Epub 2021 Apr 29 doi: 10.3389/fendo.2021.606964. PMID: 33995269Free PMC Article
Al-Kandari H, Al-Abdulrazzaq D, Al-Jaser F, Al-Mulla F, Davidsson L
Prim Care Diabetes 2021 Feb;15(1):175-177. Epub 2020 Aug 23 doi: 10.1016/j.pcd.2020.07.012. PMID: 32843252
Choi JH, Kang M, Kim JH, Cho J, Kim GH, Yoo HW
Horm Res Paediatr 2015;84(2):73-8. Epub 2015 Jul 8 doi: 10.1159/000381624. PMID: 26160152
Fareau GG, Maldonado M, Oral E, Balasubramanyam A
Metabolism 2007 May;56(5):670-5. doi: 10.1016/j.metabol.2006.12.016. PMID: 17445543

Clinical prediction guides

Zhou Q, Yu J, Yuan X, Wang C, Zhu Z, Zhang A, Gu W
Front Endocrinol (Lausanne) 2021;12:606964. Epub 2021 Apr 29 doi: 10.3389/fendo.2021.606964. PMID: 33995269Free PMC Article
Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F
Acta Diabetol 2013 Dec;50(6):951-7. Epub 2013 Jul 4 doi: 10.1007/s00592-013-0490-x. PMID: 23824322
Ice CL, Murphy E, Minor VE, Neal WA
World J Pediatr 2009 Feb;5(1):23-30. Epub 2009 Jan 27 doi: 10.1007/s12519-009-0004-7. PMID: 19172328
Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P
Clin Genet 2007 Nov;72(5):405-10. doi: 10.1111/j.1399-0004.2007.00884.x. PMID: 17935505
Berk DR, Spector EB, Bayliss SJ
Arch Dermatol 2007 Sep;143(9):1153-6. doi: 10.1001/archderm.143.9.1153. PMID: 17875876

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center