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Small hypothenar eminence

MedGen UID:
Concept ID:
Synonym: Hypothenar hypoplasia
HPO: HP:0010487


Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. [from HPO]

Conditions with this feature

Holt-Oram syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Charcot-Marie-Tooth disease type 4H
MedGen UID:
Concept ID:
Disease or Syndrome
Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner.
Richieri Costa-Pereira syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Tel Hashomer camptodactyly syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.
Diamond-Blackfan anemia 7
MedGen UID:
Concept ID:
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Camptodactyly syndrome, Guadalajara type 3
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.

Recent clinical studies


Knobloch K, Tomaszek S, Lichtenberg A, Karck M, Haverich A
Ann Thorac Surg 2006 May;81(5):1700-7. doi: 10.1016/j.athoracsur.2005.12.030. PMID: 16631659


Hemmerling TM, Michaud G, Trager G, Deschamps S
Can J Anaesth 2004 Oct;51(8):795-800. doi: 10.1007/BF03018451. PMID: 15470167


Jackowe DJ, Moore MK, Bruner AE, Fredieu JR
J Hand Surg Am 2007 Nov;32(9):1471-6. doi: 10.1016/j.jhsa.2007.07.006. PMID: 17996787

Clinical prediction guides

Moore CW, Beveridge TS, Rice CL
J Anat 2017 Oct;231(4):626-633. Epub 2017 Jun 16 doi: 10.1111/joa.12652. PMID: 28620932Free PMC Article
Knobloch K, Tomaszek S, Lichtenberg A, Karck M, Haverich A
Ann Thorac Surg 2006 May;81(5):1700-7. doi: 10.1016/j.athoracsur.2005.12.030. PMID: 16631659

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