301
(73.1%)

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Aplasia/Hypoplasia of the radius Cleft palate Non-midline cleft lip

301
(73.1%)

Holoprosencephaly-caudal dysgenesis syndrome

Median cleft lip Radial club hand

Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).

301
(73.1%)

Pentalogy of Cantrell

Aplasia/Hypoplasia of the radius Cleft palate Non-midline cleft lip

X-linked inheritance

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.

301
(73.1%)

VACTERL/VATER association

Aplasia/Hypoplasia of the radius Cleft palate Non-midline cleft lip

Sporadic

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

305
(73.1%)

Platyspondylic dysplasia, Torrance type

Cleft palate Hypoplastic scapulae Micromelia Short distal phalanx of finger

Autosomal dominant inheritance

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

306
(73.1%)

Thanatophoric dysplasia

Bifid tongue Brachydactyly Downslanted palpebral fissures Micrognathia Short femur

Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.

307
(73.0%)

Thumb deformity-alopecia-pigmentation anomaly syndrome

Everted lower lip vermilion Short thumb

Autosomal dominant inheritance

Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.

308
(73.0%)

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Micrognathia Rhizomelia Short palm Short philtrum Wide mouth

X-linked dominant inheritance

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

309
(72.9%)

Marfanoid habitus-autosomal recessive intellectual disability syndrome

Abnormality of the palpebral fissures Arachnodactyly Broad philtrum Malar flattening Thin metacarpal cortices

Autosomal recessive inheritance

Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.

310
(72.9%)

48,XXXY syndrome

Cleft palate Clinodactyly of the 5th finger Epicanthus Mandibular prognathia Radioulnar synostosis

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.

310
(72.9%)

49,XXXXY syndrome

Cleft palate Clinodactyly of the 5th finger Epicanthus Mandibular prognathia Radioulnar synostosis

The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.

312
(72.9%)

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Abnormal size of the palpebral fissures Acromesomelia Open mouth Short 5th finger

312
(72.9%)

West syndrome

Hemiatrophy Hordeolum Short thumb Wide mouth

A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

314
(72.9%)

Oliver syndrome

Mandibular prognathia Short philtrum Short toe Thick eyebrow

Autosomal recessive inheritance

Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.

315
(72.9%)

14q22q23 microdeletion syndrome

Downturned corners of mouth Epicanthus Micrognathia Short 4th metacarpal Short palm

Autosomal dominant inheritance

14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.

316
(72.9%)

Esophageal atresia

Absent radius Cleft lip Glossoptosis Micrognathia

Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.

316
(72.9%)

Dextrocardia

Cleft lip Micrognathia Preauricular skin tag Radial club hand

A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.

318
(72.9%)

Holoprosencephaly-craniosynostosis syndrome

Epicanthus Hypoplastic vertebral bodies Short distal phalanx of finger

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.

319
(72.9%)

8q12 microduplication syndrome

Epicanthus Long philtrum Short foot

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).

320
(72.9%)

Tuberculosis

Cheilitis Epicanthus Finger swelling Short tubular bones of the hand Sinusitis

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

321
(72.9%)

Autosomal recessive amelia

Amelia involving the upper limbs Micrognathia Non-midline cleft lip Oral cleft

Autosomal recessive inheritance

A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.

322
(72.9%)

Stickler syndrome

Abnormal diaphysis morphology Arachnodactyly Cleft upper lip Epicanthus Micrognathia

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).

323
(72.8%)

SHOX-related short stature

Forearm undergrowth High palate Micrognathia

X-linked inheritance

SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.

324
(72.8%)

Neurofaciodigitorenal syndrome

Abnormality of the metacarpal bones Abnormality of the philtrum Epicanthus Mandibular prognathia Triphalangeal thumb

Autosomal recessive inheritance

Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.

325
(72.8%)

ADNP syndrome

Blepharophimosis Brachydactyly Broad thumb Thin upper lip vermilion Trigonocephaly

Autosomal dominant inheritance

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

325
(72.8%)

Retinitis pigmentosa

Bowed humerus Brachydactyly Long eyelashes Microcephaly Short philtrum

Autosomal dominant inheritance Autosomal recessive inheritance X-linked recessive inheritance Mitochondrial inheritance

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

327
(72.8%)

Sanjad-Sakati syndrome

Abnormality of the dentition Long philtrum Micrognathia Small hand

Autosomal recessive inheritance

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

328
(72.7%)

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Abnormality of the dentition Epicanthus Short distal phalanx of finger

Autosomal recessive inheritance

A rare disorder characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.

328
(72.7%)

Alopecia-contractures-dwarfism-intellectual disability syndrome

Abnormality of dental enamel Short middle phalanx of finger Upslanted palpebral fissure

Autosomal recessive inheritance

A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.

330
(72.7%)

Upper limb defect-eye and ear abnormalities syndrome

Epicanthus Short metacarpal Short thumb

Autosomal recessive inheritance

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

330
(72.7%)

Sillence syndrome

Broad thumb Epicanthus Short middle phalanx of finger

Autosomal dominant inheritance

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

332
(72.7%)

Acropectorovertebral dysplasia

Broad thumb Cleft palate Short distal phalanx of finger

Autosomal dominant inheritance

A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).

332
(72.7%)

Larsen syndrome

Broad distal phalanx of finger Cleft palate Short distal phalanx of finger

Autosomal dominant inheritance

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.

334
(72.6%)

Thalidomide embryopathy

Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the ulna Chronic rhinitis Radial club hand

Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.

335
(72.6%)

Distal monosomy 7q36

Clinodactyly of the 5th finger Micrognathia Non-midline cleft lip Upslanted palpebral fissure

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.

335
(72.6%)

Distal monosomy 10p

Clinodactyly of the 5th finger Downslanted palpebral fissures Micrognathia Non-midline cleft lip

Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.

335
(72.6%)

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Clinodactyly of the 5th finger Micrognathia Non-midline cleft lip Sparse eyelashes

Autosomal dominant inheritance

An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.

338
(72.6%)

Achondrogenesis

Long philtrum Micrognathia Micromelia Short long bone

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

339
(72.5%)

Congenital absence/hypoplasia of fingers excluding thumb, unilateral

Abnormality of the metacarpal bones Short metacarpal Short thumb

Autosomal dominant inheritance

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.

339
(72.5%)

Brachydactyly type A2

Short 2nd metacarpal Short foot Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

339
(72.5%)

Syndactyly type 5

Metacarpal synostosis Metatarsal synostosis Short distal phalanx of finger

Autosomal dominant inheritance

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

339
(72.5%)

Coloboma of macula-brachydactyly type B syndrome

Broad thumb Renal agenesis Short distal phalanx of finger

Autosomal dominant inheritance

Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.

339
(72.5%)

Brachydactyly type A5

Abnormality of the metacarpal bones Broad thumb Short middle phalanx of finger

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.

339
(72.5%)

Mesoaxial synostotic syndactyly with phalangeal reduction

Metacarpal synostosis Short palm Short thumb Toe syndactyly

Autosomal recessive inheritance

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.

339
(72.5%)

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelia Brachydactyly Cuboidal metacarpal Short thumb

Autosomal recessive inheritance

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

346
(72.4%)

Pentasomy X

Micrognathia Radioulnar synostosis Small hand Upslanted palpebral fissure Wide nasal bridge

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).

347
(72.4%)

Brachydactyly-preaxial hallux varus syndrome

Abnormal palate morphology Micrognathia Short metacarpal Short metatarsal Thick eyebrow

Autosomal dominant inheritance

Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.

348
(72.4%)

Hydrolethalus

Broad thumb Cleft palate Micrognathia Postaxial hand polydactyly Unilateral cleft lip

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

349
(72.4%)

Mietens syndrome

High forehead Hypoplasia of the radius Hypoplasia of the ulna

Autosomal recessive inheritance

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.

349
(72.4%)

Léri-Weill dyschondrosteosis

Hypoplasia of the radius Hypoplasia of the ulna Micromelia Wide nasal bridge

Autosomal dominant inheritance

A rare skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.

351
(72.3%)

Charlie M syndrome

Abnormality of the metacarpal bones Brachydactyly Micrognathia Narrow mouth Non-midline cleft lip

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.

352
(72.3%)

Orofaciodigital syndrome type 4

Abnormality of the tongue Aplasia/Hypoplasia of the tibia Median cleft lip Micrognathia Micromelia

Autosomal recessive inheritance

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

353
(72.2%)

Intellectual disability-polydactyly-uncombable hair syndrome

Abnormal palate morphology Aplasia/Hypoplasia of fingers Micrognathia Upslanted palpebral fissure

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.

354
(72.2%)

Primary pulmonary hypoplasia

Cleft palate Epicanthus Micrognathia Patellar hypoplasia

Autosomal recessive inheritance

Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.

354
(72.2%)

Mosaic trisomy 8

Blepharophimosis Cleft palate Micrognathia Patellar aplasia

Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.

356
(72.2%)

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Aplasia/Hypoplasia of the distal phalanges of the toes Highly arched eyebrow Mandibular prognathia Short philtrum

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.

357
(72.2%)

Van der Woude syndrome

Cleft upper lip Epicanthus Syndactyly Temporomandibular joint ankylosis

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

358
(72.1%)

Microbrachycephaly-ptosis-cleft lip syndrome

Malar flattening Mandibular prognathia Short palm Unilateral cleft lip

Autosomal recessive inheritance

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

359
(72.1%)

Rubinstein-Taybi syndrome

Abnormality of the dentition Brachydactyly Broad thumb Epicanthus Micrognathia

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.

359
(72.1%)

Situs inversus totalis

Aglossia Blepharophimosis Brachydactyly Broad thumb Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.