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Anophthalmos with limb anomalies(MLA)

MedGen UID:
154638
Concept ID:
C0599973
Congenital Abnormality
Synonyms: Anophthalmia Waardenburg syndrome; ANOPHTHALMIA-SYNDACTYLY; Anophthalmos-syndactyly; MICROPHTHALMIA AND LIMB ANOMALIES; MICROPHTHALMIA WITH LIMB ANOMALIES; MLA; Ophthalmoacromelic syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Anophthalmos with limb anomalies (703403003); Anophthalmia-syndactyly (703403003); Syndactyly-anophthalmos syndrome (703403003); Ophthalmoacromelic syndrome (703403003); Anophthalmia-Waardenburg syndrome (703403003); Waardenburg anophthalmia syndrome (703403003); Microphthalmia with limb anomalies (703403003); Anophthalmos-limb anomalies syndrome (703403003); Ophthalmo-acromelic syndrome (703403003)
 
Gene (location): SMOC1 (14q24.2)
OMIM®: 206920
Orphanet: ORPHA1106

Definition

Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.
[from GHR]

Clinical features

Disorder of cardiovascular system
MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
Any abnormality of the cardiovascular system.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Congenital absence of the eye or eyes.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
870303
Concept ID:
C4024745
Finding
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Abnormal localization of kidney
MedGen UID:
866621
Concept ID:
C4020968
Anatomical Abnormality
An abnormal site of the kidney.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Anatomical Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
A developmental defect resulting in the presence of fewer than the normal number of toes.
Thumb deformity
MedGen UID:
107901
Concept ID:
C0575897
Finding
An anomaly of the thumb.
Aplasia of the fingers
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Synostosis of carpal bones
MedGen UID:
322856
Concept ID:
C1836193
Finding
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Camptodactyly of 2nd-5th fingers
MedGen UID:
347863
Concept ID:
C1859368
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Fused fourth and fifth metacarpals
MedGen UID:
395341
Concept ID:
C1859768
Finding
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Abnormality of the tibia
MedGen UID:
871186
Concept ID:
C4025663
Anatomical Abnormality
Abnormality of the tibia (shinbone).
Talipes equinovarus
MedGen UID:
504945
Concept ID:
CN001602
Finding
Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Abnormality of the fibula
MedGen UID:
427940
Concept ID:
CN002705
Finding
An anomaly of the calf bone (fibula), one of the two bones of the calf.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Venous insufficiency
MedGen UID:
21841
Concept ID:
C0042485
Disease or Syndrome
Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with EDEMA and sometimes with VENOUS STASIS ULCERS at the ankle.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Holoprosencephaly sequence
MedGen UID:
38214
Concept ID:
C0079541
Congenital Abnormality
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.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Camptodactyly of 2nd-5th fingers
MedGen UID:
347863
Concept ID:
C1859368
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Anatomical Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
A developmental defect resulting in the presence of fewer than the normal number of toes.
Thumb deformity
MedGen UID:
107901
Concept ID:
C0575897
Finding
An anomaly of the thumb.
Aplasia of the fingers
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Synostosis of carpal bones
MedGen UID:
322856
Concept ID:
C1836193
Finding
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Camptodactyly of 2nd-5th fingers
MedGen UID:
347863
Concept ID:
C1859368
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Fused fourth and fifth metacarpals
MedGen UID:
395341
Concept ID:
C1859768
Finding
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
An abnormality in which the mandible is mislocalised posteriorly.
Abnormality of the metacarpal bones
MedGen UID:
867414
Concept ID:
C4021785
Anatomical Abnormality
An abnormality of the metacarpal bones.
Abnormality of the tibia
MedGen UID:
871186
Concept ID:
C4025663
Anatomical Abnormality
Abnormality of the tibia (shinbone).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of the fibula
MedGen UID:
427940
Concept ID:
CN002705
Finding
An anomaly of the calf bone (fibula), one of the two bones of the calf.
Abnormality of bone mineral density
MedGen UID:
428073
Concept ID:
CN003849
Finding
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Congenital absence of the eye or eyes.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nasal flaring
MedGen UID:
124453
Concept ID:
C0277873
Sign or Symptom
Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
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.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
An abnormality in which the mandible is mislocalised posteriorly.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the eyebrow.
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Camptodactyly of 2nd-5th fingers
MedGen UID:
347863
Concept ID:
C1859368
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the eyebrow.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnophthalmos with limb anomalies
Follow this link to review classifications for Anophthalmos with limb anomalies in Orphanet.

Recent clinical studies

Diagnosis

Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci GF, Bellato S, Ammenti A, Virdis R, Banchini G, Superti-Furga A
Genet Couns 2006;17(4):449-55. PMID: 17375532

Clinical prediction guides

Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
Am J Hum Genet 2011 Jan 7;88(1):30-41. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.012. PMID: 21194678Free PMC Article
Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci GF, Bellato S, Ammenti A, Virdis R, Banchini G, Superti-Furga A
Genet Couns 2006;17(4):449-55. PMID: 17375532

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