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Hypochondroplasia(HCH)

MedGen UID:
98376
Concept ID:
C0410529
Congenital Abnormality
Synonyms: HCH
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hypochondroplasia (205468002); Hypochondrodysplasia (205468002)
 
Gene (location): FGFR3 (4p16.3)
OMIM®: 146000
Orphanet: ORPHA429

Disease characteristics

Excerpted from the GeneReview: Hypochondroplasia
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or school-age children with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.  [from GeneReviews]
Authors:
Michael B Bober  |  Gary A Bellus  |  Sarah M Nikkel, et. al.   view full author information

Additional descriptions

From OMIM
Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971).  http://www.omim.org/entry/146000
From GHR
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.  https://ghr.nlm.nih.gov/condition/hypochondroplasia

Clinical features

Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
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.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Childhood onset short-limb short stature
MedGen UID:
357998
Concept ID:
C1867487
Finding
Intellectual functioning disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
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 skull
MedGen UID:
488801
Concept ID:
C0235942
Anatomical Abnormality
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Absence (due to failure to form) or underdevelopment of the extremities.
Trident hand
MedGen UID:
98430
Concept ID:
C0426874
Finding
A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Abnormality of pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of the skull
MedGen UID:
488801
Concept ID:
C0235942
Anatomical Abnormality
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypochondroplasia
Follow this link to review classifications for Hypochondroplasia in Orphanet.

Recent clinical studies

Etiology

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB
J Clin Endocrinol Metab 2015 Feb;100(2):E355-9. Epub 2014 Nov 11 doi: 10.1210/jc.2014-2814. PMID: 25387261
Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N
Bone Joint J 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840. PMID: 25183602
Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W
Taiwan J Obstet Gynecol 2013 Dec;52(4):580-5. doi: 10.1016/j.tjog.2013.10.023. PMID: 24411048
Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR
Am J Med Genet A 2012 Oct;158A(10):2456-62. Epub 2012 Aug 17 doi: 10.1002/ajmg.a.35564. PMID: 22903874

Diagnosis

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N
Pediatr Int 2016 Aug;58(8):705-8. Epub 2016 Apr 5 doi: 10.1111/ped.12890. PMID: 26716907
De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG
Am J Med Genet A 2014 Jul;164A(7):1784-8. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36504. PMID: 24715719
Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, Milani D
Pediatr Neurol 2014 Apr;50(4):427-30. Epub 2014 Jan 7 doi: 10.1016/j.pediatrneurol.2014.01.004. PMID: 24630288
Philpott CM, Widjaja E, Raybaud C, Branson HM, Kannu P, Blaser S
Pediatr Radiol 2013 Sep;43(9):1190-5. Epub 2013 May 7 doi: 10.1007/s00247-013-2684-3. PMID: 23649205

Therapy

Kubota T, Wang W, Miura K, Nakayama H, Yamamoto K, Fujiwara M, Ohata Y, Tachibana M, Kitaoka T, Takakuwa S, Miyoshi Y, Namba N, Ozono K
Clin Endocrinol (Oxf) 2016 Jun;84(6):845-50. Epub 2016 Feb 25 doi: 10.1111/cen.13025. PMID: 26814021
Massart F, Miccoli M, Baggiani A, Bertelloni S
Pharmacogenomics 2015 Nov;16(17):1965-73. Epub 2015 Nov 10 doi: 10.2217/pgs.15.129. PMID: 26555758
Pinto G, Cormier-Daire V, Le Merrer M, Samara-Boustani D, Baujat G, Fresneau L, Viaud M, Souberbielle JC, Pineau JC, Polak M
Horm Res Paediatr 2014;82(6):355-63. Epub 2014 Oct 15 doi: 10.1159/000364807. PMID: 25323764
Rothenbuhler A, Linglart A, Piquard C, Bougnères P
J Pediatr 2012 May;160(5):849-53. Epub 2011 Dec 2 doi: 10.1016/j.jpeds.2011.10.023. PMID: 22137367
Blomberg M, Jeppesen EM, Skovby F, Benfeldt E
Dermatology 2010;220(4):297-305. Epub 2010 May 4 doi: 10.1159/000297575. PMID: 20453470

Prognosis

Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N
Bone Joint J 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840. PMID: 25183602
De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A
Georgian Med News 2012 Sep;(210):77-82. PMID: 23045425
Rothenbuhler A, Linglart A, Piquard C, Bougnères P
J Pediatr 2012 May;160(5):849-53. Epub 2011 Dec 2 doi: 10.1016/j.jpeds.2011.10.023. PMID: 22137367
Schlüter B, De Sousa G, Trowitzsch E, Andler W
Georgian Med News 2011 Jul-Aug;(196-197):63-72. PMID: 21873755
Hanson AA
J Bodyw Mov Ther 2010 Apr;14(2):172-8. Epub 2010 Feb 1 doi: 10.1016/j.jbmt.2010.01.003. PMID: 20226364

Clinical prediction guides

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N
Pediatr Int 2016 Aug;58(8):705-8. Epub 2016 Apr 5 doi: 10.1111/ped.12890. PMID: 26716907
Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB
J Clin Endocrinol Metab 2015 Feb;100(2):E355-9. Epub 2014 Nov 11 doi: 10.1210/jc.2014-2814. PMID: 25387261
Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N
Bone Joint J 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840. PMID: 25183602
Dumic K, Barisic I, Potocki K, Sansovic I
J Appl Genet 2011 May;52(2):209-12. Epub 2011 Jan 12 doi: 10.1007/s13353-010-0024-y. PMID: 21225389

Recent systematic reviews

Massart F, Miccoli M, Baggiani A, Bertelloni S
Pharmacogenomics 2015 Nov;16(17):1965-73. Epub 2015 Nov 10 doi: 10.2217/pgs.15.129. PMID: 26555758
Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article

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