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Non-midline cleft lip

MedGen UID:
451693
Concept ID:
CN117231
Finding
Synonyms: Non-midline cleft of the upper lip
 
HPO: HP:0100335

Definition

Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. [from HPO]

Conditions with this feature

Steinert myotonic dystrophy syndrome
MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Microsomia hemifacial radial defects
MedGen UID:
67392
Concept ID:
C0220681
Disease or Syndrome
VATER association
MedGen UID:
67396
Concept ID:
C0220708
Congenital Abnormality
VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).
Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia or agenesis); characteristic facial appearance (coarse facies, ocular hypertelorism, broad and flat nasal bridge, thick nasal tip, long philtrum, low-set and poorly formed ears, tented upper lip, macrostomia, micrognathia); distal digital hypoplasia (nails, terminal phalanges); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia/renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, genitalia). Survival beyond the neonatal period has been rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.
Laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Goldenhar syndrome
MedGen UID:
75554
Concept ID:
C0265240
Congenital Abnormality
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, renal, cardiac, and limb, can be seen.
Nager syndrome
MedGen UID:
120519
Concept ID:
C0265245
Congenital Abnormality
Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).
Miller syndrome
MedGen UID:
120522
Concept ID:
C0265257
Disease or Syndrome
Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).
Popliteal pterygium syndrome
MedGen UID:
78543
Concept ID:
C0265259
Congenital Abnormality
IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP)?Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P . Fistulae of the lower lip . Webbing of the skin extending from the ischial tuberosities to the heels . In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes . Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic) . In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon) . In both VWS and PPS, growth and intelligence are normal.
Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Branchiooculofacial syndrome
MedGen UID:
91261
Concept ID:
C0376524
Congenital Abnormality
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical [90%] or infra- or supra-auricular [60%]) skin defects that range from barely perceptible thin skin or hair patch to erythematous “hemangiomatous” lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits and lower facial weakness (asymmetric crying face or partial 7(th) cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.
Microcephaly, normal intelligence and immunodeficiency
MedGen UID:
140771
Concept ID:
C0398791
Congenital Abnormality
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time and most children tested after age seven years have mild to moderate intellectual disability. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Approximately 40% of affected individuals have developed malignancies before age 20 years, with the risk being highest for T-cell (55%) and B-cell lymphomas (45%). Other tumors include T-cell lymphoma and solid tumors (e.g., medulloblastoma, glioma, and rhabdomyosarcoma). Note, however, that much of what is reported about NBS is based on individuals who are homozygous for the single most common Eastern European pathogenic variant, 657_661del5.
Hay-Wells syndrome of ectodermal dysplasia
MedGen UID:
98032
Concept ID:
C0406709
Congenital Abnormality
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which includes the Rapp-Hodgkin syndrome, is characterized by ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids); ectodermal defects (sparse wiry hair; skin erosions and unique pigmentary changes; nail changes; dental changes; subjective decrease in sweating capacity); and cleft lip/palate. Nearly 100% of affected neonates have superficial skin erosions that range from very limited to severe, even life-threatening, full body involvement. Scalp erosions at birth and during infancy are typical and, when severe, can lead to scarring alopecia and hypotrichosis. Limb anomalies are common and can include syndactyly of fingers and toes, camptodactyly (permanent and irreducible flexion of the fingers), and ectrodactyly (split hand split foot malformation).
Hardikar syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
A syndrome of multiple abnormalities comprising obstructive liver disease with cholestasis, hydroureter and hydronephrosis, cleft lip and palate, retinal pigmentation, and gastrointestinal obstructive disorders. Mental development is usually normal or moderately retarded. Initial growth delay is a constant feature. This and Kabuki make-up syndrome share many common characteristics.
Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011).
Cleft lip/palate with abnormal thumbs and microcephaly
MedGen UID:
162906
Concept ID:
C0796099
Disease or Syndrome
Orofaciodigital syndrome 8
MedGen UID:
208667
Concept ID:
C0796101
Disease or Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder. The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability. Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism). Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome. Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.
Pallister W syndrome
MedGen UID:
163215
Concept ID:
C0796110
Disease or Syndrome
Mental retardation with characteristic pugilistic facies (flat nose, frontal prominence, hypertelorism, downslanting palpebral fissures, and anterior cowlick), midline notch on the upper lip, cleft palate, spasticity, and various musculoskeletal anomalies. The original cases were reported in brothers R. W. and S. W., hence the synonym W syndrome.
Sao paulo mca/mr syndrome
MedGen UID:
162914
Concept ID:
C0796142
Disease or Syndrome
The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate.
Pashayan syndrome
MedGen UID:
163226
Concept ID:
C0796197
Disease or Syndrome
Telecanthus, displacement of the lacrimal puncta, lacrimal defects, masklike facies, and mental deficiency.
DiGeorge syndrome/velocardiofacial syndrome complex 2
MedGen UID:
321954
Concept ID:
C1832431
Disease or Syndrome
Amelia, autosomal recessive
MedGen UID:
321955
Concept ID:
C1832432
Disease or Syndrome
Tibia absent polydactyly arachnoid cyst
MedGen UID:
318725
Concept ID:
C1832859
Disease or Syndrome
Anophthalmia plus syndrome
MedGen UID:
322166
Concept ID:
C1833339
Disease or Syndrome
Al Gazali syndrome
MedGen UID:
373020
Concept ID:
C1836121
Disease or Syndrome
Cleft palate, isolated
MedGen UID:
332392
Concept ID:
C1837218
Finding
Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570.
Pentalogy of Cantrell
MedGen UID:
374153
Concept ID:
C1839172
Disease or Syndrome
Contractures ectodermal dysplasia cleft lip palate
MedGen UID:
375546
Concept ID:
C1844935
Disease or Syndrome
Hartsfield syndrome
MedGen UID:
335111
Concept ID:
C1845146
Disease or Syndrome
Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE.
Siderius X-linked mental retardation syndrome
MedGen UID:
337375
Concept ID:
C1846055
Disease or Syndrome
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip. Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.
Abidi X-linked mental retardation syndrome
MedGen UID:
337376
Concept ID:
C1846056
Disease or Syndrome
Mental retardation Wolff type
MedGen UID:
336345
Concept ID:
C1848439
Disease or Syndrome
Gonadal dysgenesis, xy type, with associated anomalies
MedGen UID:
344696
Concept ID:
C1856272
Disease or Syndrome
Genito palato cardiac syndrome
MedGen UID:
341558
Concept ID:
C1856466
Disease or Syndrome
Frontofacionasal dysplasia
MedGen UID:
341599
Concept ID:
C1856687
Disease or Syndrome
The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissues, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).
Verloove Vanhorick Brubakk syndrome
MedGen UID:
395171
Concept ID:
C1859082
Disease or Syndrome
Coloboma of alar-nasal cartilages with telecanthus
MedGen UID:
348504
Concept ID:
C1859964
Disease or Syndrome
Acrofrontofacionasal dysostosis syndrome
MedGen UID:
349729
Concept ID:
C1860118
Disease or Syndrome
Ankyloblepharon filiforme adnatum and cleft palate
MedGen UID:
400148
Concept ID:
C1862866
Congenital Abnormality

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