60
(80.7%)

multiple congenital anomalies-hypotonia-seizures syndrome 1

Epicanthus Long philtrum Micrognathia Short distal phalanx of finger

Autosomal recessive inheritance

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.

60
(80.7%)

Cornelia de Lange syndrome 3

Long eyelashes Micrognathia Short 5th finger Thin upper lip vermilion

Autosomal dominant inheritance

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.

60
(80.7%)

Yunis-Varon syndrome

Micrognathia Short finger Short upper lip Upslanted palpebral fissure

Autosomal recessive inheritance

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

60
(80.7%)

chromosome 15q24 deletion syndrome

Epicanthus Microretrognathia Short palm Short thumb Smooth philtrum

Autosomal dominant inheritance Sporadic

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

60
(80.7%)

progeroid syndrome, Petty type

Downslanted palpebral fissures Micrognathia Short distal phalanx of finger Thin upper lip vermilion

Autosomal dominant inheritance

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

66
(80.7%)

asphyxiating thoracic dystrophy 1

Hypoplasia of the ulna Renal insufficiency Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.

67
(80.5%)

atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Aplasia of the 1st metacarpal Blepharophimosis Hypoplasia of the ulna Micrognathia Wide nasal bridge

Autosomal recessive inheritance

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly 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.

68
(80.5%)

microgastria-limb reduction defect syndrome

Cryptorchidism Hand oligodactyly Hypoplasia of the ulna

Sporadic

This syndrome is characterised by the association of microgastria with a limb reduction defect.

69
(80.5%)

Sweeney-Cox syndrome

Long fingers Micrognathia Short philtrum Upper eyelid coloboma

Autosomal dominant inheritance

70
(80.5%)

acro-renal-mandibular syndrome

Epicanthus Hypoplasia of the radius Hypoplasia of the ulna Micrognathia Narrow palate

Autosomal recessive inheritance

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

71
(80.5%)

Peters plus syndrome

Cleft upper lip Micrognathia Short metatarsal Short palm Upslanted palpebral fissure

Autosomal recessive inheritance

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

72
(80.4%)

microcephaly-micromelia syndrome

Absent radius Cleft palate Forearm undergrowth Micrognathia Short palpebral fissure

Autosomal recessive inheritance

72
(80.4%)

tarp syndrome

Cleft palate Hypoplasia of the 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.

72
(80.4%)

Seckel syndrome 1

Cleft palate Downslanted palpebral fissures Hypoplasia of proximal radius Micrognathia

Autosomal recessive inheritance

Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.

75
(80.3%)

orofaciodigital syndrome IV

Cleft palate Epicanthus Micrognathia Short finger Short tibia

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.

76
(80.3%)

choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Cleft upper lip Lower eyelid coloboma Micrognathia

Autosomal recessive inheritance

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.

76
(80.3%)

oculo-auriculo-vertebral spectrum

Cleft upper lip Micrognathia Upper eyelid coloboma

Autosomal dominant inheritance

78
(80.2%)

Ulbright-Hodes syndrome

Aplasia of the ulna Micrognathia Narrow mouth Short metacarpal Thin vermilion border

Autosomal recessive inheritance

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.

79
(80.2%)

phocomelia, Schinzel type

Aplasia of the ulna Congenital pseudoarthrosis of the clavicle Epicanthus Hand oligodactyly Narrow palate

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.

80
(80.2%)

skeletal defects, genital hypoplasia, and intellectual disability

Absent thumb Hypoplasia of the ulna Narrow mouth Thin vermilion border

Autosomal recessive inheritance