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Hypochondroplasia(HCH)

MedGen UID:
98376
Concept ID:
C0410529
Congenital Abnormality
Synonym: HCH
SNOMED CT: Hypochondroplasia (205468002); Hypochondrodysplasia (205468002)
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.
 
Gene (location): FGFR3 (4p16.3)
 
Monarch Initiative: MONDO:0007793
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 at early school age 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 (HCH) is an 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 MedlinePlus Genetics
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 a large head (macrocephaly), 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 in people with achondroplasia and may not be noticeable until early or middle childhood. Affected individuals have a small increased risk of a seizure disorder known as temporal lobe epilepsy. 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://medlineplus.gov/genetics/condition/hypochondroplasia

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
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.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Aplasia/hypoplasia of the extremities
MedGen UID:
1635318
Concept ID:
C4551464
Congenital Abnormality
Absence (due to failure to form) or underdevelopment of the extremities.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
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.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
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 bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
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
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Widened interpedicular distance
MedGen UID:
868390
Concept ID:
C4022784
Finding
An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
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.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
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.

Term Hierarchy

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

Professional guidelines

PubMed

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
Hagenäs L, Hertel T
Horm Res 2003;60 Suppl 3:65-70. doi: 10.1159/000074504. PMID: 14671400
Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG
J Pediatr 1998 Jul;133(1):99-102. doi: 10.1016/s0022-3476(98)70186-6. PMID: 9672519

Recent clinical studies

Etiology

Kim HY, Lee YA, Shin CH, Cho TJ, Ko JM
Exp Clin Endocrinol Diabetes 2023 Mar;131(3):123-131. Epub 2022 Nov 28 doi: 10.1055/a-1988-9734. PMID: 36442838
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF
Can Assoc Radiol J 1999 Jun;50(3):185-97. PMID: 10405653
Ramaswami U, Hindmarsh PC, Brook CG
Acta Paediatr Suppl 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x. PMID: 10102069
Wynne-Davies R, Walsh WK, Gormley J
J Bone Joint Surg Br 1981;63B(4):508-15. doi: 10.1302/0301-620X.63B4.7298674. PMID: 7298674
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Diagnosis

Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF
Can Assoc Radiol J 1999 Jun;50(3):185-97. PMID: 10405653
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139
Newman DE, Dunbar JC
J Can Assoc Radiol 1975 Jun;26(2):95-103. PMID: 1158967

Therapy

Kochar IS, Chugh R
Pediatr Endocrinol Rev 2020 Aug;17(4):327-330. doi: 10.17458/per.vol17.2020.kc.ghtreatmentskeletaldysplasia. PMID: 32780956
Byron SA, Pollock PM
Future Oncol 2009 Feb;5(1):27-32. doi: 10.2217/14796694.5.1.27. PMID: 19243295
Ramaswami U, Hindmarsh PC, Brook CG
Acta Paediatr Suppl 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x. PMID: 10102069
Galasso C, Scirè G, Boscherini B
Horm Res 1995;44 Suppl 3:42-8. doi: 10.1159/000184673. PMID: 8719440
Bridges NA, Brook CG
Horm Res 1994;42(4-5):231-4. doi: 10.1159/000184198. PMID: 7868078

Prognosis

Jelin AC, Blakemore K, Trebes S, Sagaser K, Forster KR, Russo M, Hoover-Fong J
J Matern Fetal Neonatal Med 2022 Jul;35(14):2788-2794. Epub 2020 Aug 4 doi: 10.1080/14767058.2020.1802715. PMID: 32752906Free PMC Article
González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE
Am J Med Genet A 2018 May;176(5):1225-1231. doi: 10.1002/ajmg.a.38660. PMID: 29681095
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
Ramaswami U, Hindmarsh PC, Brook CG
Acta Paediatr Suppl 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x. PMID: 10102069
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Clinical prediction guides

Kim HY, Lee YA, Shin CH, Cho TJ, Ko JM
Exp Clin Endocrinol Diabetes 2023 Mar;131(3):123-131. Epub 2022 Nov 28 doi: 10.1055/a-1988-9734. PMID: 36442838
Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG
Genes (Basel) 2022 Nov 7;13(11) doi: 10.3390/genes13112063. PMID: 36360300Free PMC Article
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Ramaswami U, Hindmarsh PC, Brook CG
Acta Paediatr Suppl 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x. PMID: 10102069
Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M
J Med Genet 1996 Sep;33(9):749-52. doi: 10.1136/jmg.33.9.749. PMID: 8880574Free PMC Article

Recent systematic reviews

Billich N, O'Brien K, Fredwall SO, Lee M, Savarirayan R, Davidson ZE
Genet Med 2023 Oct;25(10):100920. Epub 2023 Jun 14 doi: 10.1016/j.gim.2023.100920. PMID: 37330695
Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M
Am J Med Genet A 2021 Jan;185(1):73-82. Epub 2020 Oct 14 doi: 10.1002/ajmg.a.61912. PMID: 33051983
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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