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Focal dermal hypoplasia(FDH)

MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Synonyms: FDH; Goltz Gorlin Syndrome; Goltz Syndrome
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
SNOMED CT: Focal facial dermal dysplasia (2298005); Focal dermal hypoplasia (205573006); FDH - Focal dermal hypoplasia (205573006); FODH - Focal dermal hypoplasia (205573006); Goltz syndrome (2298005); Focal dermal hypoplasia syndrome (2298005); Goltz-Gorlin syndrome (2298005)
 
Gene (location): PORCN (Xp11.23)
OMIM®: 305600
Orphanet: ORPHA2092

Disease characteristics

Excerpted from the GeneReview: Focal Dermal Hypoplasia
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
V Reid Sutton  |  Ignatia B Van den Veyver   view full author information

Additional description

From GHR
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present. About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.  http://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Neoplasm of the skeletal system
MedGen UID:
430030
Concept ID:
CN009448
Finding
A tumor (abnormal growth of tissue) of the skeleton.
Verrucae
MedGen UID:
452085
Concept ID:
CN117784
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Labial hypoplasia
MedGen UID:
375447
Concept ID:
C1844528
Congenital Abnormality
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Clitoral hypoplasia
MedGen UID:
500882
Concept ID:
CN000060
Finding
Developmental hypoplasia of the clitoris.
Ureteral duplication
MedGen UID:
500883
Concept ID:
CN000073
Finding
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Horseshoe kidney
MedGen UID:
504333
Concept ID:
CN000085
Finding
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the kidney.
Bifid ureter
MedGen UID:
807871
Concept ID:
CN218473
Finding
Incomplete duplication of the ureter.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Pointed chin
MedGen UID:
335820
Concept ID:
C1842873
Finding
Cleft ala nasi
MedGen UID:
336715
Concept ID:
C1844537
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Anophthalmia
MedGen UID:
340863
Concept ID:
C1855428
Finding
Delayed eruption of teeth
MedGen UID:
400949
Concept ID:
C1866235
Finding
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
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).
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.
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Narrow nasal bridge
MedGen UID:
504444
Concept ID:
CN000417
Finding
Decreased width of the bony bridge of the nose.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Hypodontia
MedGen UID:
504548
Concept ID:
CN000629
Finding
A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Oligodontia
MedGen UID:
504552
Concept ID:
CN000637
Finding
A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Abnormality of dental morphology
MedGen UID:
428219
Concept ID:
CN005644
Finding
An abnormality of the morphology of the tooth.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Anophthalmia
MedGen UID:
340863
Concept ID:
C1855428
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Aniridia
MedGen UID:
504480
Concept ID:
CN000492
Finding
Congenital absence of the iris.
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A coloboma of the iris.
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.
Ectopia lentis
MedGen UID:
504717
Concept ID:
CN001016
Finding
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Choroideremia
MedGen UID:
504743
Concept ID:
CN001071
Finding
Aplasia/Hypoplasia of the iris
MedGen UID:
429187
Concept ID:
CN007080
Finding
Absence or underdevelopment of the iris.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
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.
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Stenosis of the external auditory canal
MedGen UID:
504433
Concept ID:
CN000375
Finding
An abnormal narrowing of the external auditory canal.
Mixed hearing impairment
MedGen UID:
504437
Concept ID:
CN000383
Finding
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Agenesis of corpus callosum
MedGen UID:
373288
Concept ID:
C1837248
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Arnold-Chiari malformation
MedGen UID:
375495
Concept ID:
C1844744
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Hypoplastic nipples
MedGen UID:
381226
Concept ID:
C1853630
Finding
Supernumerary nipple
MedGen UID:
505270
Concept ID:
CN002323
Finding
Presence of more than two nipples.
Short finger
MedGen UID:
68683
Concept ID:
C0239594
Finding
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
Midclavicular aplasia
MedGen UID:
337017
Concept ID:
C1844529
Finding
Midclavicular hypoplasia
MedGen UID:
337018
Concept ID:
C1844530
Finding
Short metatarsal
MedGen UID:
334976
Concept ID:
C1844547
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Short ribs
MedGen UID:
500894
Concept ID:
CN000727
Finding
Reduced rib length.
Abnormality of the clavicle
MedGen UID:
425018
Concept ID:
CN000834
Finding
Any abnormality of the clavicles (collar bones).
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
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.
Oligodactyly (hands)
MedGen UID:
504756
Concept ID:
CN001104
Finding
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Foot polydactyly
MedGen UID:
427897
Concept ID:
CN001656
Finding
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Split foot
MedGen UID:
504969
Concept ID:
CN001664
Finding
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Spina bifida
MedGen UID:
505230
Concept ID:
CN002193
Finding
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Abnormality of pelvic girdle bone morphology
MedGen UID:
428305
Concept ID:
CN002405
Finding
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Abnormality of epiphysis morphology
MedGen UID:
425804
Concept ID:
CN005226
Finding
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Neoplasm of the skeletal system
MedGen UID:
430030
Concept ID:
CN009448
Finding
A tumor (abnormal growth of tissue) of the skeleton.
Osteopathia striata
MedGen UID:
426766
Concept ID:
CN009566
Finding
A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Rough bone trabeculation
MedGen UID:
451945
Concept ID:
CN117562
Finding
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Anteriorly placed anus
MedGen UID:
344094
Concept ID:
C1853620
Finding
Duodenal stenosis
MedGen UID:
348189
Concept ID:
C1860791
Finding
Intestinal malrotation
MedGen UID:
440888
Concept ID:
C2749839
Finding
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Diastasis recti
MedGen UID:
504851
Concept ID:
CN001406
Finding
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Hiatus hernia
MedGen UID:
505064
Concept ID:
CN001841
Finding
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Acute hepatic failure
MedGen UID:
505930
Concept ID:
CN005710
Finding
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Finding
Reticular hyperpigmentation
MedGen UID:
338832
Concept ID:
C1851972
Finding
Nail dysplasia
MedGen UID:
384044
Concept ID:
C1857047
Finding
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
Telangiectasia
MedGen UID:
369777
Concept ID:
C1963248
Finding
Linear hyperpigmentation
MedGen UID:
480288
Concept ID:
C3278658
Finding
Hypermelanotic macule
MedGen UID:
500898
Concept ID:
CN000969
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the nail.
Absent fingernail
MedGen UID:
500910
Concept ID:
CN001646
Finding
Absence of a fingernail.
Brittle hair
MedGen UID:
505186
Concept ID:
CN002087
Finding
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Dermal atrophy
MedGen UID:
425252
Concept ID:
CN003835
Finding
Partial or complete wasting (atrophy) of the skin.
Sparse hair
MedGen UID:
501034
Concept ID:
CN007096
Finding
Reduced density of hairs.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Verrucae
MedGen UID:
452085
Concept ID:
CN117784
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Telangiectasia
MedGen UID:
369777
Concept ID:
C1963248
Finding
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Abnormality of the pulmonary vasculature
MedGen UID:
428495
Concept ID:
CN004373
Finding
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Abnormality of the larynx
MedGen UID:
446418
Concept ID:
CN001456
Finding
An abnormality of the larynx.
Abnormality of the pulmonary vasculature
MedGen UID:
428495
Concept ID:
CN004373
Finding
Aplasia/Hypoplasia of the lungs
MedGen UID:
446777
Concept ID:
CN005835
Finding
Diastasis recti
MedGen UID:
504851
Concept ID:
CN001406
Finding
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Hiatus hernia
MedGen UID:
505064
Concept ID:
CN001841
Finding
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Abnormality of adipose tissue
MedGen UID:
428873
Concept ID:
CN008014
Finding
An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Short finger
MedGen UID:
68683
Concept ID:
C0239594
Finding
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
Short metatarsal
MedGen UID:
334976
Concept ID:
C1844547
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
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.
Oligodactyly (hands)
MedGen UID:
504756
Concept ID:
CN001104
Finding
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Foot polydactyly
MedGen UID:
427897
Concept ID:
CN001656
Finding
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Split foot
MedGen UID:
504969
Concept ID:
CN001664
Finding
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Short phalanx of finger
MedGen UID:
447122
Concept ID:
CN008660
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Osteopathia striata
MedGen UID:
426766
Concept ID:
CN009566
Finding
A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Abnormality of the mediastinum
MedGen UID:
830564
Concept ID:
CN224637
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFocal dermal hypoplasia

Recent clinical studies

Etiology

Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F
Pediatr Neurol 2014 Apr;50(4):389-91. Epub 2013 Dec 14 doi: 10.1016/j.pediatrneurol.2013.12.009. [Epub ahead of print] PMID: 24486222
Patrizi A, Tabanelli M, Grzeschik KH, Misciali C, Neri I, Happle R
Dermatology 2012;224(2):97-100. Epub 2012 Mar 9 doi: 10.1159/000336204. [Epub ahead of print] PMID: 22414489
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. PMID: 16394441
Kanitakis J, Souillet AL, Butnaru C, Claudy A
Pediatr Dermatol 2003 May-Jun;20(3):249-53. PMID: 12787276

Diagnosis

Young MP, Sawyer BL, Hartnett ME
J AAPOS 2014 Apr;18(2):205-7. doi: 10.1016/j.jaapos.2013.11.015. PMID: 24698628Free PMC Article
Peters T, Perrier R, Haber RM
Pediatr Dermatol 2014 Mar-Apr;31(2):220-4. Epub 2014 Jan 5 doi: 10.1111/pde.12267. [Epub ahead of print] PMID: 24387693
Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC
Am J Med Genet A 2014 Mar;164A(3):778-81. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36341. [Epub ahead of print] PMID: 24357603
Lentini M, Greco D, Schepis C
Acta Derm Venereol 2013 Jan;93(1):124, 126. doi: 10.2340/00015555-1383. PMID: 22688728
Kanemura H, Hatakeyama K, Sugita K, Aihara M
Pediatr Neurol 2011 Feb;44(2):135-8. doi: 10.1016/j.pediatrneurol.2010.08.003. PMID: 21215914

Therapy

Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T
Eur J Dermatol 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911. PMID: 23399492
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236
Liu J, Hsu PT, VanderWielen BA, Teng JM
Pediatr Dermatol 2012 May-Jun;29(3):324-6. Epub 2011 Oct 13 doi: 10.1111/j.1525-1470.2011.01436.x. [Epub ahead of print] PMID: 21995324
Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA
Br J Dermatol 2009 May;160(5):1103-9. Epub 2009 Mar 9 doi: 10.1111/j.1365-2133.2009.09048.x. [Epub ahead of print] PMID: 19292719
Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K
Eur J Hum Genet 2009 Oct;17(10):1207-15. Epub 2009 Mar 11 doi: 10.1038/ejhg.2009.40. [Epub ahead of print] PMID: 19277062Free PMC Article

Prognosis

Tirado M, Ständer S, Metze D
Am J Dermatopathol 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081. PMID: 24698937
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779
Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M
Fetal Pediatr Pathol 2010;29(5):305-13. doi: 10.3109/15513811003796912. PMID: 20704476
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. PMID: 16394441
Temple IK, MacDowall P, Baraitser M, Atherton DJ
J Med Genet 1990 Mar;27(3):180-7. PMID: 2325092Free PMC Article

Clinical prediction guides

Tirado M, Ständer S, Metze D
Am J Dermatopathol 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081. PMID: 24698937
Biechele S, Adissu HA, Cox BJ, Rossant J
PLoS One 2013;8(11):e79139. Epub 2013 Nov 1 doi: 10.1371/journal.pone.0079139. PMID: 24223895Free PMC Article
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH
Am J Med Genet A 2013 Jul;161A(7):1750-4. Epub 2013 May 21 doi: 10.1002/ajmg.a.35964. [Epub ahead of print] PMID: 23696273
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236
Barrott JJ, Cash GM, Smith AP, Barrow JR, Murtaugh LC
Proc Natl Acad Sci U S A 2011 Aug 2;108(31):12752-7. Epub 2011 Jul 18 doi: 10.1073/pnas.1006437108. [Epub ahead of print] PMID: 21768372Free PMC Article

Recent systematic reviews

Wettke-Schäfer R, Kantner G
Hum Genet 1983;64(1):1-23. PMID: 6873941
Toro-Sola MA, Kistenmacher ML, Punnett HH, DiGeorge AM
Clin Genet 1975 Apr;7(4):325-7. PMID: 1126054

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