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Long upper lip

MedGen UID:
Concept ID:
Synonyms: Elongation of upper lip; Increased height of upper lip; Increased vertical length of upper lip
HPO: HP:0011341


Increased width of the upper lip. [from HPO]

Term Hierarchy

Conditions with this feature

Baller-Gerold syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
MedGen UID:
Concept ID:
Disease or Syndrome
Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).
Perlman syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).
Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
X-linked lissencephaly with abnormal genitalia
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Pierpont syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Ehlers-Danlos syndrome, spondylodysplastic type, 2
MedGen UID:
Concept ID:
Disease or Syndrome
The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
Concept ID:
Disease or Syndrome
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.

Professional guidelines


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Galeotti A, De Rosa S, Uomo R, Dionisi-Vici C, Deodato F, Taurisano R, Olivieri G, Festa P
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Ehsani S, Nebbe B, Normando D, Lagravere MO, Flores-Mir C
Eur J Orthod 2015 Apr;37(2):170-6. Epub 2014 Jul 22 doi: 10.1093/ejo/cju030. PMID: 25052373

Recent clinical studies


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Echo A, Momoh AO, Yuksel E
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de Souza Pinto EB
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Kozma C
Am J Med Genet 2001 Jan 15;98(2):168-75. PMID: 11223853
Dennis NR, Neu RL, Bannerman RM
Am J Med Genet 1978;1(3):271-7. doi: 10.1002/ajmg.1320010303. PMID: 677166


Lacarbonara M, Cazzolla AP, Lacarbonara VA, Di Venere D, Capogreco M, Marzo G
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da Fonseca MA
Am J Med Genet 2000 Jul 17;93(2):158-60. doi: 10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4. PMID: 10869120
Santolaya JM, Grijalbo A, Delgado A, Erdozaín G
Am J Med Genet 1992 Jun 1;43(3):609-11. doi: 10.1002/ajmg.1320430321. PMID: 1605258
Elias-Jones AC, Habibi P, Larcher VF, Spencer T, Butler LJ
Arch Dis Child 1988 Apr;63(4):427-31. doi: 10.1136/adc.63.4.427. PMID: 3284482Free PMC Article


Peller AJ, Hunt AT, Holmes LB
Birth Defects Res 2021 Jul 15;113(12):995-1000. Epub 2021 Mar 15 doi: 10.1002/bdr2.1890. PMID: 33723918
Baudoin J, Meuli JN, di Summa PG, Watfa W, Raffoul W
J Cosmet Dermatol 2019 Apr;18(2):444-450. Epub 2019 Mar 12 doi: 10.1111/jocd.12881. PMID: 30861627
Kozma C
Am J Med Genet 2001 Jan 15;98(2):168-75. PMID: 11223853
Maloney BP
Facial Plast Surg 1996 Jul;12(3):265-78. doi: 10.1055/s-0028-1082417. PMID: 9243995
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041


Dennis NR, Neu RL, Bannerman RM
Am J Med Genet 1978;1(3):271-7. doi: 10.1002/ajmg.1320010303. PMID: 677166

Clinical prediction guides

DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

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