474
(70.5%)

Lung agenesis-heart defect-thumb anomalies syndrome

Abnormality of the ribs Short thumb

Autosomal recessive inheritance

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.

474
(70.5%)

Weill-Marchesani syndrome

Glaucoma Short thumb

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

483
(70.4%)

Fibular hemimelia

Abnormal morphology of ulna Craniosynostosis Short toe

Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.

484
(70.4%)

Cloverleaf skull-multiple congenital anomalies syndrome

Micrognathia Proximal placement of thumb Rhizomelia Short philtrum

Autosomal recessive inheritance

This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.

485
(70.4%)

Intellectual disability, Birk-Barel type

Broad philtrum Congenital finger flexion contractures Highly arched eyebrow Micrognathia

Autosomal dominant inheritance

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

485
(70.4%)

8p inverted duplication/deletion syndrome

Clinodactyly of the 5th finger Long philtrum Micrognathia Synophrys

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.

487
(70.4%)

Schneckenbecken dysplasia

Cleft palate Fibular hypoplasia Short ribs

Autosomal recessive inheritance

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

488
(70.3%)

Sirenomelia

Absence of the sacrum Absent external genitalia Aplasia/Hypoplasia of the radius

Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.

489
(70.3%)

Melnick-Needles syndrome

Delayed eruption of teeth Full cheeks Micrognathia Short distal phalanx of finger

X-linked dominant inheritance

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

489
(70.3%)

Progeria-short stature-pigmented nevi syndrome

Bifid uvula Micrognathia Short distal phalanx of finger

Autosomal dominant inheritance Autosomal recessive inheritance

Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

491
(70.3%)

Desbuquois syndrome

Abnormal eyelash morphology Anteverted nares Radioulnar synostosis Short metacarpal

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

492
(70.3%)

Pseudohypoparathyroidism type 1C

Conjunctivitis Delayed eruption of teeth Short 3rd metacarpal Short fifth metatarsal

Autosomal dominant inheritance

Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

492
(70.3%)

Pseudohypoparathyroidism type 1A

Conjunctivitis Delayed eruption of teeth Short 3rd metacarpal Short fifth metatarsal

Autosomal dominant inheritance

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

494
(70.3%)

Symbrachydactyly of hands and feet

Abnormality of the ulna Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the thumb Scoliosis

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.

494
(70.3%)

Humero-radio-ulnar synostosis

Abnormality of the ureter Aplasia/Hypoplasia of the thumb Radioulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.

496
(70.3%)

Postaxial polydactyly-dental and vertebral anomalies syndrome

Brachydactyly Cleft palate Epicanthus Hypoplastic vertebral bodies

Autosomal recessive inheritance

Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.

497
(70.2%)

SCARF syndrome

Epicanthus Long philtrum Short sternum

X-linked recessive inheritance

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.

498
(70.2%)

Eye defects-arachnodactyly-cardiopathy syndrome

Arachnodactyly Cleft palate Craniofacial hyperostosis Non-midline cleft lip Radioulnar synostosis

499
(70.2%)

Aase-Smith syndrome

Aplasia/Hypoplasia of the radius Cleft palate Trismus

Autosomal dominant inheritance

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

500
(70.2%)

Acromesomelic dysplasia, Grebe type

Aplasia/Hypoplasia of the thumb Brachydactyly Fibular hypoplasia Short foot

Autosomal recessive inheritance

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

501
(70.2%)

Radial hemimelia

Abnormal thumb morphology Aplasia of the 1st metacarpal Aplasia/Hypoplasia of the radius

Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.

502
(70.1%)

Proboscis lateralis

Encephalocele Eyelid coloboma Median cleft lip

Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).

502
(70.1%)

Frontofacionasal dysplasia

Brachycephaly Non-midline cleft lip Upper eyelid coloboma

Autosomal recessive inheritance

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

504
(70.1%)

VACTERL with hydrocephalus

Hypoplasia of the radius Micrognathia Retrognathia

Autosomal recessive inheritance X-linked recessive inheritance

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

505
(70.1%)

Gorlin syndrome

Arachnodactyly Brachydactyly Cleft lip Epicanthus Mandibular prognathia

Autosomal dominant inheritance Heterogeneous

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

506
(70.0%)

Pseudoachondroplasia

Hypoplasia of the odontoid process Platyspondyly Short metacarpal Short palm

Autosomal dominant inheritance

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

507
(70.0%)

Xp22.13p22.2 duplication syndrome

Downslanted palpebral fissures High palate Mandibular prognathia Small hand

Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.

507
(70.0%)

SHORT syndrome

Abnormality of the dentition Abnormality of the mandible Short palm Telecanthus

Autosomal dominant inheritance

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.

509
(70.0%)

Cleft velum

Blepharochalasis Flexion contracture of finger Micrognathia Thin vermilion border

Autosomal dominant inheritance Multifactorial inheritance

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.

510
(69.9%)

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Hypoplasia of the radius Mandibular prognathia

Autosomal dominant inheritance

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.

511
(69.9%)

Cleidocranial dysplasia

Abnormality of the metacarpal bones Brachydactyly Cleft lip Glossoptosis Micrognathia

Autosomal dominant inheritance

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

512
(69.9%)

3q27.3 microdeletion syndrome

Arachnodactyly Downslanted palpebral fissures Mandibular prognathia Thin upper lip vermilion

3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.

512
(69.9%)

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Abnormal size of the palpebral fissures Long philtrum Mandibular prognathia Ulnar deviation of finger

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.

512
(69.9%)

Renpenning syndrome

Abnormal thumb morphology Epicanthus Mandibular prognathia Short philtrum

X-linked recessive inheritance

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.

512
(69.9%)

Monosomy 22

Clinodactyly of the 5th finger Epicanthus Long philtrum Retrognathia Single transverse palmar crease

A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.

512
(69.9%)

Hennekam syndrome

Camptodactyly of finger Epicanthus Retrognathia Short philtrum

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

512
(69.9%)

X-linked intellectual disability, Snyder type

Arachnodactyly Mandibular prognathia Smooth philtrum Upslanted palpebral fissure

X-linked recessive inheritance

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

512
(69.9%)

2p15p16.1 microdeletion syndrome

Epicanthus Retrognathia Smooth philtrum Tapered finger

Sporadic

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

512
(69.9%)

Monosomy 18q

Abnormal palmar dermatoglyphics Arachnodactyly Epicanthus Mandibular prognathia Short philtrum

Autosomal dominant inheritance Sporadic

Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.

512
(69.9%)

PMM2-CDG

Epicanthus Long fingers Retrognathia Thin upper lip vermilion

Autosomal recessive inheritance

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

521
(69.9%)

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Epicanthus High palate Micrognathia Short toe

Autosomal dominant inheritance Contiguous gene syndrome

A syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

522
(69.9%)

Atresia of small intestine

Adactyly Aglossia Cleft lip

Autosomal recessive inheritance Multifactorial inheritance

A special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. This disorder is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. It may be a manifestation of cystic fibrosis and the most important cause of mortality is short bowel syndrome, encountered in 65% of cases.

523
(69.8%)

Distal Xq28 microduplication syndrome

Clinodactyly Hypoplasia of the maxilla Thick lower lip vermilion Upper eyelid edema

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

524
(69.8%)

Müllerian duct anomalies-limb anomalies syndrome

Aplasia/Hypoplasia of the ulna Microcephaly Micromelia Short humerus

Autosomal dominant inheritance

Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.

524
(69.8%)

Diaphragmatic defect-limb deficiency-skull defect syndrome

Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Decreased skull ossification

Autosomal recessive inheritance

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.

526
(69.8%)

Aplasia cutis congenita

Limbal dermoid Short finger

Autosomal dominant inheritance Autosomal recessive inheritance

A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

527
(69.8%)

8q22.1 microdeletion syndrome

Camptodactyly of finger Hypoplasia of the maxilla Long philtrum Telecanthus

Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

528
(69.8%)

Symptomatic form of Coffin-Lowry syndrome in female carriers

Downslanted palpebral fissures Everted lower lip vermilion Frontal bossing Large hands

528
(69.8%)

Ring chromosome 22 syndrome

Epicanthus Large hands Microcephaly Thick vermilion border

Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.

530
(69.7%)

Cleft palate-lateral synechia syndrome

Blepharophimosis Everted lower lip vermilion Micrognathia

Autosomal dominant inheritance

Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.

530
(69.7%)

Microcephaly-deafness-intellectual disability syndrome

Epicanthus Everted lower lip vermilion Micrognathia

Autosomal dominant inheritance

Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.

530
(69.7%)

Non-distal trisomy 10q

Downslanted palpebral fissures Everted lower lip vermilion Micrognathia

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.

530
(69.7%)

Deafness-intellectual disability syndrome, Martin-Probst type

Epicanthus Micrognathia Thick lower lip vermilion

X-linked recessive inheritance

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

530
(69.7%)

Distal trisomy 6p

Abnormal eyelash morphology Micrognathia Thin vermilion border

Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.

530
(69.7%)

Craniosynostosis-anal anomalies-porokeratosis syndrome

Absent eyelashes Micrognathia Thick vermilion border

Autosomal recessive inheritance

Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).

536
(69.7%)

Arterial tortuosity syndrome

Arachnodactyly Avascular necrosis of the capital femoral epiphysis Blepharophimosis Malar flattening Median cleft lip and palate

Autosomal recessive inheritance

A rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

537
(69.6%)

Angel-shaped phalango-epiphyseal dysplasia

Hypodontia Short 1st metacarpal Short middle phalanx of the 5th finger

Autosomal dominant inheritance

A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

537
(69.6%)

Carpenter syndrome

Broad thumb Hypodontia Short finger

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

539
(69.6%)

Xq27.3q28 duplication syndrome

Short foot Small hand Thin vermilion border

X-linked recessive inheritance

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

540
(69.6%)

Waardenburg syndrome

Abnormal lip morphology Telecanthus Tetraphocomelia

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.