61
(81.0%)

X small rings

Epicanthus Lower limb undergrowth Thin upper lip vermilion Upper limb undergrowth

X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.

62
(81.0%)

Roberts syndrome

Aplasia/Hypoplasia of the thumb Cleft palate Cleft upper lip Hypoplasia of the radius Micrognathia

Autosomal recessive inheritance

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

63
(81.0%)

Acro-renal-ocular syndrome

Epicanthus Hypoplasia of the ulna Short distal phalanx of the thumb

A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome.

64
(81.0%)

Juberg-Hayward syndrome

Abnormal eyebrow morphology Hypoplasia of the radius Oral cleft Short thumb

Autosomal dominant inheritance Autosomal recessive inheritance

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.

65
(80.8%)

Weaver syndrome

Broad thumb Downslanted palpebral fissures Large hands Long philtrum Micrognathia

Autosomal dominant inheritance

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

66
(80.7%)

Distal monosomy 15q

Blepharophimosis Micrognathia Short finger Thin upper lip vermilion

Sporadic

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

66
(80.7%)

Non-distal monosomy 20q

Epicanthus Microretrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

66
(80.7%)

Coffin-Siris syndrome

Epicanthus Micrognathia Short distal phalanx of finger Short philtrum

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

66
(80.7%)

Acroosteolysis dominant type

Downslanted palpebral fissures Long philtrum Micrognathia Short distal phalanx of finger

Autosomal dominant inheritance

A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

70
(80.7%)

Keipert syndrome

Broad distal phalanx of finger Epicanthus Exaggerated cupid's bow Hypoplasia of the maxilla Short distal phalanx of finger

Autosomal dominant inheritance

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.

71
(80.7%)

Trisomy 8p

Retrognathia Short 1st metacarpal Short fourth metatarsal Thin vermilion border Upslanted palpebral fissure

Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.

72
(80.6%)

Rothmund-Thomson syndrome

Abnormality of the ulna Aplasia/Hypoplasia of the thumb Epicanthus Micrognathia Short philtrum

Autosomal recessive inheritance

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

73
(80.5%)

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Aplasia of the proximal phalanges of the hand Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Wide nasal bridge

Autosomal recessive inheritance

Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.

73
(80.5%)

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Aplasia/Hypoplasia of the thumb Blepharophimosis Hypoplasia of the ulna Micrognathia Wide nasal bridge

Autosomal recessive inheritance

A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.

75
(80.5%)

Pallister-Hall syndrome

Cleft lip Downslanted palpebral fissures Microretrognathia Radial bowing Short 4th metacarpal

Autosomal dominant inheritance

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

75
(80.5%)

Turner syndrome

Abnormal forearm bone morphology Cleft lip Epicanthus Micrognathia Short 4th metacarpal

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

77
(80.5%)

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Epicanthus Long philtrum Micrognathia Partial absence of thumb Unilateral radial aplasia

Autosomal dominant inheritance

78
(80.4%)

TARP syndrome

Cleft palate Hypoplasia of proximal radius Micrognathia Short palpebral fissure

X-linked inheritance X-linked recessive inheritance

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

79
(80.4%)

Trisomy 13

Abnormal eyelash morphology Median cleft lip Meromelia Micrognathia Overlapping fingers

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

79
(80.4%)

Holoprosencephaly

Epicanthus Median cleft lip Meromelia Micrognathia Overlapping fingers

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.

81
(80.4%)

Contractures-developmental delay-Pierre Robin syndrome

Cleft palate Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short thumb

82
(80.3%)

Treacher-Collins syndrome

Cleft upper lip Eyelid coloboma Micrognathia

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

83
(80.2%)

DOORS syndrome

11 pairs of ribs Epicanthus Short 5th finger Thin upper lip vermilion

Autosomal recessive inheritance

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

84
(80.1%)

Lethal faciocardiomelic dysplasia

Hypoplasia of the ulna Microretrognathia Narrow mouth Short 5th finger

Autosomal recessive inheritance

An extremely rare polymalformative syndrome.

85
(80.0%)

Aarskog-Scott syndrome

Cleft upper lip Epicanthus Hypoplasia of the maxilla Short finger Short palm

X-linked recessive inheritance

A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

86
(79.8%)

Microcephalic osteodysplastic primordial dwarfism types I and III

Broad distal phalanx of finger Downslanted palpebral fissures Large hands Micrognathia Thick vermilion border

Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

87
(79.8%)

Tetralogy of Fallot

Brachydactyly Epicanthus Micrognathia Radioulnar synostosis Unilateral cleft lip

Autosomal dominant inheritance Multifactorial inheritance

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

88
(79.8%)

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Blepharophimosis Long philtrum Micrognathia Radioulnar synostosis Short palm

Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.

88
(79.8%)

Genitopatellar syndrome

Blepharophimosis Long philtrum Micrognathia Radioulnar synostosis Short palm

Autosomal dominant inheritance Autosomal recessive inheritance

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

88
(79.8%)

2q31.1 microdeletion syndrome

Abnormality of the ulna Epicanthus Long philtrum Micrognathia Short palm

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

91
(79.8%)

Duodenal atresia

Absent radius Micrognathia Short palpebral fissure Unilateral cleft lip

Autosomal recessive inheritance

Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.

92
(79.8%)

Acrodysostosis

Epicanthus Hypoplasia of the ulna Mandibular prognathia Open mouth Short metacarpal

A rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

93
(79.7%)

Hypertelorism-hypospadias-polysyndactyly syndrome

Broad thumb Eyelid coloboma Large fontanelles Long philtrum Preaxial hand polydactyly

Autosomal recessive inheritance

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

94
(79.6%)

Coffin-Lowry syndrome

Epicanthus Hypoplasia of the maxilla Short distal phalanx of finger Short metacarpal Thick lower lip vermilion

X-linked dominant inheritance Sporadic

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

95
(79.6%)

Oculofaciocardiodental syndrome

Highly arched eyebrow Long philtrum Radioulnar synostosis Short thumb

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

96
(79.6%)

Neu-Laxova syndrome

Abnormal eyelid morphology Abnormality of the philtrum Large hands Micrognathia Micromelia

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

97
(79.6%)

Moebius syndrome

Abnormality of the ulna Aplasia/Hypoplasia of the thumb Epicanthus Everted lower lip vermilion Micrognathia

Autosomal dominant inheritance Sporadic

A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

98
(79.5%)

Acrofacial dysostosis, Palagonia type

Abnormal eyelid morphology Micrognathia Short 4th metacarpal Unilateral cleft lip

Autosomal dominant inheritance

A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

99
(79.5%)

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Aplasia/Hypoplasia of the frontal sinuses Brachydactyly Cleft palate Eyelid coloboma

Autosomal recessive inheritance

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

100
(79.5%)

Oculoauriculofrontonasal syndrome

Broad philtrum Micrognathia Upper eyelid coloboma

Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.

101
(79.5%)

Poland syndrome

Abnormality of the ulna Cleft lip Retinal hamartoma Short finger Short ribs

Autosomal dominant inheritance

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.

102
(79.4%)

Cranioectodermal dysplasia

Epicanthus Everted lower lip vermilion Rhizomelia Short finger Short ribs

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

103
(79.4%)

Spondyloperipheral dysplasia-short ulna syndrome

Hypoplasia of the ulna Micromelia Pectus carinatum Short metacarpal

Autosomal dominant inheritance

Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.

104
(79.3%)

Ring chromosome 7 syndrome

Epicanthus Mandibular prognathia Short 5th finger Short philtrum

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

105
(79.2%)

Phocomelia, Schinzel type

Aplasia of the ulna Cleft palate Hand oligodactyly Micrognathia

Autosomal recessive inheritance

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

106
(79.1%)

Hypoglossia-hypodactyly syndrome

Aplasia/Hypoplasia of fingers Cleft lip Micrognathia Short distal phalanx of finger Telecanthus

Autosomal dominant inheritance Sporadic

A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.

107
(79.1%)

Aminopterin/methotrexate embryofetopathy

Aplasia/Hypoplasia of the thumb Epicanthus Micrognathia Micromelia Non-midline cleft lip

A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.

108
(79.0%)

Ruvalcaba syndrome

Downslanted palpebral fissures Micromelia Short finger Short metacarpal Thin vermilion border

Autosomal dominant inheritance

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

109
(79.0%)

Smith-Lemli-Opitz syndrome

Aplasia/Hypoplasia of the radius Epicanthus Long philtrum Micrognathia

Autosomal recessive inheritance

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

110
(78.9%)

Saethre-Chotzen syndrome

Cleft palate Epicanthus Hypoplasia of the maxilla Proximal radio-ulnar synostosis Short finger

Autosomal dominant inheritance

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

111
(78.8%)

Oligodontia

Brachydactyly Broad thumb Long eyelashes Micrognathia Unilateral cleft lip

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

112
(78.7%)

Blomstrand lethal chondrodysplasia

Long philtrum Micrognathia Short metacarpal Telecanthus

Autosomal recessive inheritance

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

113
(78.6%)

Brachytelephalangy-dysmorphism-Kallmann syndrome

Short distal phalanx of finger Telecanthus Thin upper lip vermilion

Autosomal dominant inheritance

Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.

113
(78.6%)

Char syndrome

Downslanted palpebral fissures Short middle phalanx of the 5th finger Short philtrum

Autosomal dominant inheritance

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).

113
(78.6%)

Hypertrichotic osteochondrodysplasia, Cantu type

Epicanthus Long philtrum Short distal phalanx of finger

Autosomal dominant inheritance

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

113
(78.6%)

Distal 22q11.2 microdeletion syndrome

Blepharophimosis Short distal phalanx of finger Short palm Thin upper lip vermilion

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

117
(78.4%)

Ulnar hypoplasia-split foot syndrome

Hypoplasia of the ulna Split hand

X-linked recessive inheritance

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.

117
(78.4%)

Upper limb mesomelic dysplasia

Fibular aplasia Hypoplasia of the ulna Radial bowing

Autosomal dominant inheritance

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

117
(78.4%)

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Hypoplasia of the ulna Micromelia Strabismus

Autosomal dominant inheritance

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

120
(78.4%)

Acromegaly

Large hands Mandibular prognathia Palpebral edema Short 5th metacarpal Thick lower lip vermilion

An acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.