1001
(63.5%)

intellectual disability, autosomal dominant 49

Epicanthus Long philtrum Sandal gap Wide mouth

Autosomal dominant inheritance X-linked inheritance

1002
(63.5%)

talonavicular coalition

Abnormality of the ankles Short hallux

Autosomal dominant inheritance

1002
(63.5%)

Guttmacher syndrome

Glandular hypospadias Short 2nd toe

Autosomal dominant inheritance

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.

1002
(63.5%)

fibular aplasia-ectrodactyly syndrome

Brachydactyly Fibular aplasia

Autosomal dominant inheritance

Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.

1002
(63.5%)

camptobrachydactyly

Brachydactyly Short toe Urinary incontinence

Autosomal dominant inheritance

Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.

1002
(63.5%)

Adams-Oliver syndrome 4

Cutis marmorata Short toe

Autosomal recessive inheritance

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.

1007
(63.4%)

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Downslanted palpebral fissures Micrognathia

X-linked recessive inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.

1007
(63.4%)

ectrodactyly of lower limbs, congenital heart defect, and micrognathia

Blepharophimosis Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

1007
(63.4%)

Frias syndrome

Downslanted palpebral fissures Micrognathia

Autosomal dominant inheritance

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.

1007
(63.4%)

trisomy 18-like syndrome

Micrognathia Preauricular skin tag Telecanthus

Autosomal recessive inheritance

1007
(63.4%)

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Downslanted palpebral fissures Micrognathia

Autosomal dominant inheritance

1007
(63.4%)

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Epicanthus Micrognathia

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.

1007
(63.4%)

neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Long eyelashes Micrognathia Sloping forehead

Autosomal recessive inheritance

1007
(63.4%)

cystic fibrosis-gastritis-megaloblastic anemia syndrome

Long face Micrognathia Telecanthus

Autosomal recessive inheritance

A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.

1007
(63.4%)

lymphedema, hereditary, type III

Epicanthus Facial edema Micrognathia

Autosomal recessive inheritance

1007
(63.4%)

Harel-Yoon syndrome

Long face Micrognathia Upslanted palpebral fissure

Autosomal dominant inheritance Autosomal recessive inheritance

1007
(63.4%)

mosaic variegated aneuploidy syndrome 2

Epicanthus Long face Micrognathia

Autosomal recessive inheritance

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.

1007
(63.4%)

Matthew-Wood syndrome

Blepharophimosis Micrognathia Wide nasal bridge

Autosomal recessive inheritance

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

1007
(63.4%)

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Epicanthus Micrognathia

Autosomal dominant inheritance

1020
(63.4%)

orofacial cleft 13

Cleft soft palate Micrognathia

Autosomal dominant inheritance

1020
(63.4%)

isolated cleft palate

Cleft palate Micrognathia

Autosomal dominant inheritance

A cleft palate that is not part of a larger syndrome.

1020
(63.4%)

isotretinoin-like syndrome

Cleft palate Micrognathia

Autosomal recessive inheritance

Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.

1020
(63.4%)

isolated Pierre-Robin syndrome

Cleft palate Glossoptosis Micrognathia

Autosomal recessive inheritance

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

1020
(63.4%)

hydrolethalus syndrome 2

Cleft palate Micrognathia

Autosomal recessive inheritance

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.

1020
(63.4%)

Pierre Robin sequence with pectus excavatum and rib and scapular anomalies

Cleft palate Micrognathia

Autosomal dominant inheritance

1020
(63.4%)

nemaline myopathy 9

Cleft palate Micrognathia

Autosomal recessive inheritance

Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.

1020
(63.4%)

cerebrooculofacioskeletal syndrome 3

Cleft palate Micrognathia

Autosomal recessive inheritance

1020
(63.4%)

dextrocardia with unusual facies and microphthalmia

Cleft palate Micrognathia

Autosomal recessive inheritance

1020
(63.4%)

Neu-Laxova syndrome 2

Cleft palate Micrognathia

Autosomal recessive inheritance

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.

1020
(63.4%)

periventricular nodular heterotopia 7

Cleft palate Micrognathia

Autosomal dominant inheritance

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.

1020
(63.4%)

auriculocondylar syndrome 2

Cleft palate Mandibular condyle aplasia Narrow mouth

Autosomal dominant inheritance Autosomal recessive inheritance

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.

1020
(63.4%)

PGM1-CDG

Cleft palate Micrognathia

Autosomal recessive inheritance

1020
(63.4%)

Diamond-Blackfan anemia 10

Cleft palate Micrognathia

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.

1020
(63.4%)

auriculocondylar syndrome 1

Cleft palate Micrognathia Narrow mouth

Autosomal dominant inheritance

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.

1035
(63.4%)

chromosome 6q11-q14 deletion syndrome

Epicanthus Short neck Single transverse palmar crease Thin upper lip vermilion

Sporadic

1036
(63.4%)

polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Dolichocephaly Micrognathia Overlapping fingers

Autosomal recessive inheritance

1037
(63.3%)

IFAP syndrome with or without BRESHECK syndrome

Absent eyelashes Cleft palate Microcephaly Postaxial hand polydactyly

X-linked recessive inheritance

An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.

1038
(63.3%)

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

Coarse facial features Short foot Short palm

Autosomal recessive inheritance

Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.

1038
(63.3%)

scapuloperoneal spinal muscular atrophy, autosomal dominant

Facial palsy Small hand

Autosomal dominant inheritance Autosomal recessive inheritance

1038
(63.3%)

NGLY1-deficiency

Narrow face Short foot Small hand

Autosomal recessive inheritance

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.

1041
(63.3%)

Cole-Carpenter syndrome 1

Microdontia Micrognathia Shallow orbits

Autosomal dominant inheritance

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.

1042
(63.2%)

Fraser syndrome 2

Cryptophthalmos Cutaneous syndactyly Narrow mouth Short thorax

Autosomal recessive inheritance

1043
(63.2%)

FGFR2-related bent bone dysplasia

Brachydactyly Gingival overgrowth Micrognathia

Autosomal dominant inheritance

1044
(63.2%)

anauxetic dysplasia 2

Brachydactyly Hypoplasia of the femoral head Macroglossia

Autosomal recessive inheritance

1044
(63.2%)

leukocyte adhesion deficiency type II

Brachydactyly Coarse facial features Periodontitis Short foot

Autosomal recessive inheritance

Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.

1044
(63.2%)

Bardet-Biedl syndrome 1

Brachydactyly High palate Short foot

Autosomal recessive inheritance

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.

1047
(63.2%)

spondyloepiphyseal dysplasia congenita

Cleft palate Flattened epiphysis Hypoplasia of the odontoid process

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

1048
(63.2%)

Meckel syndrome, type 5

Bowing of the long bones Cleft palate Cleft upper lip Occipital encephalocele Postaxial hand polydactyly

Autosomal recessive inheritance Heterogeneous

Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.

1049
(63.2%)

Say-Barber-Miller syndrome

Micrognathia Patellar hypoplasia Sloping forehead

Autosomal recessive inheritance

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.

1050
(63.1%)

Troyer syndrome

Brachydactyly Drooling Short foot

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

1051
(63.1%)

Laron syndrome

Limb undergrowth Short long bone Small face

Autosomal recessive inheritance

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

1052
(63.1%)

congenital disorder of glycosylation with defective fucosylation 1

High palate Limb undergrowth Retrognathia

Autosomal recessive inheritance

1053
(63.0%)

chondrodysplasia Blomstrand type

Malar flattening Micrognathia Micromelia

Autosomal recessive inheritance

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

1054
(63.0%)

Meckel syndrome, type 10

Cleft palate Epicanthus Frontal bossing Postaxial polydactyly

Autosomal recessive inheritance

Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.

1054
(63.0%)

orofaciodigital syndrome type 14

Cleft palate Postaxial polydactyly Telecanthus Trigonocephaly

Autosomal recessive inheritance

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

1056
(63.0%)

mesomelic dysplasia, Savarirayan type

Delayed closure of the anterior fontanelle Fibular aplasia Short tibia

Autosomal dominant inheritance

Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.

1057
(63.0%)

intellectual disability, X-linked 107

Mandibular prognathia Smooth philtrum Upslanted palpebral fissure

X-linked inheritance

1057
(63.0%)

Dias-Logan syndrome

Epicanthus Microcephaly Retrognathia Thin upper lip vermilion

Autosomal dominant inheritance

1057
(63.0%)

intellectual disability, X-linked 21

Mandibular prognathia Tented upper lip vermilion Upslanted palpebral fissure

X-linked recessive inheritance X-linked dominant inheritance

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.

1057
(63.0%)

intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

Downslanted palpebral fissures Increased size of the mandible Smooth philtrum

X-linked recessive inheritance

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.

1057
(63.0%)

Axenfeld-Rieger syndrome type 2

Mandibular prognathia Short philtrum Telecanthus

Autosomal dominant inheritance

An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.

1057
(63.0%)

intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Epicanthus Microcephaly Retrognathia Smooth philtrum

Autosomal recessive inheritance

1057
(63.0%)

Waardenburg syndrome type 1

Mandibular prognathia Smooth philtrum Telecanthus

Autosomal dominant inheritance

Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

1057
(63.0%)

Baraitser-winter syndrome 2

Retrognathia Telecanthus Thin upper lip vermilion Trigonocephaly

Autosomal dominant inheritance

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.

1057
(63.0%)

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Epicanthus Mandibular prognathia Microcephaly Thin upper lip vermilion

Autosomal dominant inheritance

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

1066
(63.0%)

neurodevelopmental disorder with severe motor impairment and absent language

Epicanthus Everted lower lip vermilion Microcephaly Pes planus

Autosomal dominant inheritance

1067
(62.9%)

growth delay-hydrocephaly-lung hypoplasia syndrome

Micrognathia Short lower limbs

Autosomal recessive inheritance

Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.

1068
(62.9%)

vertebral, cardiac, renal, and limb defects syndrome 1

Cleft palate Hypoplastic sacrum

Autosomal recessive inheritance

1069
(62.9%)

X-linked hypohidrotic ectodermal dysplasia

Absent eyelashes Everted upper lip vermilion Hypoplasia of the maxilla

X-linked recessive inheritance Heterogeneous

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.

1070
(62.9%)

craniosynostosis with anomalies of the cranial base and digits

Absent middle phalanx of 5th finger Craniosynostosis

Autosomal recessive inheritance

1070
(62.9%)

Fanconi anemia complementation group Q

Absent thumb Microcephaly

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.

1072
(62.8%)

brachyolmia type 1, Hobaek type

Short femoral neck Short long bone Short neck

Autosomal recessive inheritance

1073
(62.8%)

Donohue syndrome

Large hands Thick lower lip vermilion Wide mouth

Autosomal recessive inheritance

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.

1074
(62.7%)

dysostosis, Stanescu type

Brachydactyly Craniofacial dysostosis Micromelia

Autosomal dominant inheritance

Stanescu type dysostosis is a rare form of osteosclerosis.

1074
(62.7%)

achondroplasia

Brachydactyly Malar flattening Rhizomelia

Autosomal dominant inheritance

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

1076
(62.7%)

acromegaloid changes, cutis verticis gyrata, and corneal leukoma

Large hands Mandibular prognathia

Autosomal dominant inheritance

1076
(62.7%)

congenital generalized lipodystrophy type 1

Large hands Mandibular prognathia

Autosomal recessive inheritance Heterogeneous

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.

1076
(62.7%)

congenital generalized lipodystrophy type 2

Large hands Mandibular prognathia

Autosomal recessive inheritance Heterogeneous

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.

1079
(62.6%)

intellectual disability, X-linked 9

Abnormal distal phalanx morphology of finger Long palpebral fissure Thick lower lip vermilion

X-linked inheritance X-linked recessive inheritance

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.

1080
(62.6%)

Christianson syndrome

Adducted thumb Mandibular prognathia Open mouth Thick eyebrow

X-linked inheritance X-linked recessive inheritance

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

1081
(62.6%)

Chitayat syndrome

Anteverted nares Brachydactyly Pectus excavatum Thick vermilion border

Autosomal dominant inheritance

1082
(62.6%)

brachycephaly, trichomegaly, and developmental delay

Cleft palate Epicanthus Microcephaly Single transverse palmar crease

Autosomal dominant inheritance

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).

1082
(62.6%)

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation

Cleft palate Deep palmar crease Dolichocephaly Downslanted palpebral fissures

Autosomal dominant inheritance

1084
(62.5%)

achondrogenesis type IB

Malar flattening Micromelia Short ribs

Autosomal recessive inheritance

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

1085
(62.5%)

macrocephaly-developmental delay syndrome

Clinodactyly of the 5th finger Downslanted palpebral fissures Mandibular prognathia Retrognathia

Autosomal recessive inheritance

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.

1085
(62.5%)

camptodactyly syndrome, Guadalajara type 3

Absent phalangeal crease Malar flattening Retrognathia Small thenar eminence Telecanthus

Autosomal dominant inheritance

Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.

1087
(62.5%)

aneurysm-osteoarthritis syndrome

Arachnodactyly Cleft palate Retrognathia

Autosomal dominant inheritance

1088
(62.5%)

anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

Abnormality of the dentition Short foot

Autosomal recessive inheritance

1088
(62.5%)

spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

Oligodontia Short femoral neck

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.

1088
(62.5%)

Rett syndrome

Abnormality of the dentition Short foot

X-linked dominant inheritance

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

1088
(62.5%)

cerebroretinal microangiopathy with calcifications and cysts 1

Oral leukoplakia Short femoral neck

Autosomal recessive inheritance

Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.

1092
(62.5%)

tibial hemimelia

Abnormality of the skeletal system Absent tibia

Autosomal recessive inheritance

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.

1092
(62.5%)

patella aplasia/hypoplasia

Abnormality of the skin Patellar hypoplasia

Autosomal dominant inheritance

Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.

1092
(62.5%)

tibia, hypoplasia or aplasia of, with polydactyly

Abnormal heart morphology Absent tibia

Autosomal dominant inheritance

1092
(62.5%)

tibia, absence of, with congenital deafness

Absent tibia Hearing impairment

Autosomal recessive inheritance

1092
(62.5%)

clubfoot

Patellar hypoplasia Talipes equinovarus

Autosomal dominant inheritance

The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.

1092
(62.5%)

aniridia-absent patella syndrome

Aplasia/Hypoplasia of the patella Glaucoma

Autosomal dominant inheritance

Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.

1092
(62.5%)

metaphyseal anadysplasia 2

Bowing of the legs Short femoral neck

Autosomal recessive inheritance

Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.

1092
(62.5%)

white forelock with malformations

Aplasia/Hypoplasia of the distal phalanges of the toes Hypertelorism

Autosomal recessive inheritance

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.

1092
(62.5%)

epiphyseal dysplasia, multiple, 7

Platyspondyly Short femoral neck

Autosomal recessive inheritance