689
(67.7%)

epiphyseal dysplasia, Baumann type

Aplasia of metacarpal bones Carpal bone aplasia Joint laxity

Autosomal recessive inheritance

689
(67.7%)

multiple epiphyseal dysplasia type 1

Joint stiffness Short metacarpal

Autosomal dominant inheritance Heterogeneous

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

703
(67.6%)

mucopolysaccharidosis type 7

Gingival overgrowth Hypoplasia of the odontoid process Proximal tapering of metacarpals Thick eyebrow

Autosomal recessive inheritance

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

704
(67.6%)

dyssegmental dysplasia-glaucoma syndrome

Cleft palate Micromelia Short long bone

Autosomal recessive inheritance

This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.

705
(67.6%)

mesomelic dwarfism-cleft palate-camptodactyly syndrome

Camptodactyly of finger Cleft palate Mesomelic leg shortening Micrognathia

Autosomal recessive inheritance

Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.

706
(67.6%)

microphthalmia, syndromic 1

Cleft upper lip Oral cleft Radial deviation of finger Short clavicles

X-linked inheritance

707
(67.6%)

microcephalic osteodysplastic primordial dwarfism, type 3

Clinodactyly of the 5th finger Hypoplasia of the capital femoral epiphysis Micrognathia Thick upper lip vermilion

Autosomal recessive inheritance

708
(67.6%)

distal arthrogryposis type 5D

Adducted thumb Cleft palate Highly arched eyebrow Micrognathia

Autosomal recessive inheritance

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

709
(67.5%)

short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Cleft palate Micrognathia Rhizomelia

Autosomal dominant inheritance

710
(67.5%)

acromelic frontonasal dysostosis

Brachycephaly Cleft upper lip Downslanted palpebral fissures Syndactyly

Autosomal dominant inheritance

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

711
(67.4%)

lethal polymalformative syndrome, Boissel type

Brachydactyly Cleft palate Macroglossia Retrognathia

Autosomal recessive inheritance

712
(67.4%)

Jawad syndrome

Prominent nose Retrognathia Short middle phalanx of the 5th finger

Autosomal recessive inheritance

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

712
(67.4%)

sclerosteosis 2

Mandibular prognathia Short finger

Autosomal dominant inheritance Autosomal recessive inheritance

Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.

714
(67.4%)

craniosynostosis-anal anomalies-porokeratosis syndrome

Cleft palate Short ribs Sparse eyelashes

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).

714
(67.4%)

LEOPARD syndrome 1

Cleft palate Epicanthus Missing ribs

Autosomal dominant inheritance

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.

716
(67.4%)

Greenberg dysplasia

Abnormality of the orbital region Micrognathia Micromelia Misalignment of teeth Postaxial hand polydactyly

Autosomal recessive inheritance

A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

717
(67.4%)

osteogenesis imperfecta type 10

Dentinogenesis imperfecta Micrognathia Micromelia Shallow orbits

Autosomal recessive inheritance

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.

718
(67.4%)

hereditary spastic paraplegia 16

Facial hypotonia Hypoplasia of the maxilla Short distal phalanx of finger

X-linked recessive inheritance

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.

719
(67.4%)

mucolipidosis type III

Carpal bone hypoplasia Coarse facial features Short long bone Short ribs

Autosomal recessive inheritance

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

719
(67.4%)

Dyggve-Melchior-Clausen disease

Carpal bone hypoplasia Coarse facial features Hypoplastic scapulae Short metatarsal

Autosomal recessive inheritance

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.

721
(67.3%)

LEOPARD syndrome 2

Cubitus valgus Epicanthus Mandibular prognathia Thick lower lip vermilion

Autosomal dominant inheritance

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.

721
(67.3%)

Noonan syndrome 5

Cubitus valgus Epicanthus Mandibular prognathia Thick vermilion border

Autosomal dominant inheritance

Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.

723
(67.3%)

Adams-Oliver syndrome 1

Brachydactyly Cleft palate Cleft upper lip Microcephaly

Autosomal dominant inheritance

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.

724
(67.3%)

autosomal recessive cutis laxa type 2A

Congenital hip dislocation Downslanted palpebral fissures Long philtrum Malar flattening

Autosomal recessive inheritance

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

725
(67.3%)

lethal congenital contracture syndrome 9

Adducted thumb Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.

725
(67.3%)

congenital contractures of the limbs and face, hypotonia, and developmental delay

Adducted thumb Long philtrum Micrognathia Pursed lips

Autosomal dominant inheritance

725
(67.3%)

nephrotic syndrome, type 11

Arachnodactyly Cleft palate Micrognathia Smooth philtrum

Autosomal recessive inheritance

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.

725
(67.3%)

polymicrogyria with or without vascular-type ehlers-danlos syndrome

Micrognathia Slender finger Smooth philtrum Thin vermilion border

Autosomal recessive inheritance

725
(67.3%)

Galloway-Mowat syndrome 7

Arachnodactyly Cleft palate Micrognathia Smooth philtrum

Autosomal recessive inheritance

725
(67.3%)

cerebellar atrophy, visual impairment, and psychomotor retardation;

Micrognathia Prominent fingertip pads Short upper lip

Autosomal recessive inheritance

725
(67.3%)

Mullegama-Klein-Martinez syndrome

Cleft palate Clinodactyly of the 5th finger Micrognathia Thin upper lip vermilion

X-linked inheritance

725
(67.3%)

recombinant 8 syndrome

Abnormality of the dentition Clinodactyly of the 5th finger Micrognathia Thin upper lip vermilion

Autosomal dominant inheritance

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

725
(67.3%)

neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

High palate Long fingers Micrognathia Smooth philtrum

Autosomal recessive inheritance

734
(67.2%)

syndromic X-linked intellectual disability Siderius type

Cleft lip Large hands Thoracic kyphosis Upslanted palpebral fissure

X-linked recessive inheritance

735
(67.2%)

short-rib thoracic dysplasia 15 with polydactyly

Accessory oral frenulum Brachydactyly Epicanthus Short ribs

Autosomal recessive inheritance

736
(67.2%)

Tukel syndrome

Carpal bone aplasia Congenital fibrosis of extraocular muscles Postaxial oligodactyly

Autosomal recessive inheritance

737
(67.2%)

atypical glycine encephalopathy

Anteverted nares Hand clenching Long eyelashes Retrognathia

Autosomal recessive inheritance

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.

738
(67.2%)

brachydactyly type E2

Oligodontia Short metacarpal Short metatarsal

Autosomal dominant inheritance

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.

738
(67.2%)

pseudopseudohypoparathyroidism

Delayed eruption of teeth Full cheeks Short metacarpal Short metatarsal

Autosomal dominant inheritance

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).

738
(67.2%)

pseudohypoparathyroidism type 1C

Delayed eruption of teeth Full cheeks Short metacarpal Short metatarsal

Autosomal dominant inheritance

Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) 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), but normal activity of the stimulatory protein G (Gs alpha).

738
(67.2%)

metaphyseal chondrodysplasia, Kaitila type

Narrow palate Short metacarpal Short metatarsal Short toe

Autosomal recessive inheritance

Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.

742
(67.2%)

Sifrim-Hitz-Weiss syndrome

Coarse facial features Epicanthus Short clavicles Short femoral neck

Autosomal dominant inheritance

743
(67.1%)

holoprosencephaly-craniosynostosis syndrome

Coronal craniosynostosis Hypoplastic vertebral bodies Short distal phalanx of finger

Autosomal recessive inheritance

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

744
(67.1%)

Gabriele de Vries syndrome

Downslanted palpebral fissures Long fingers Malar flattening Thick lower lip vermilion

Autosomal dominant inheritance

745
(67.0%)

short-rib thoracic dysplasia 14 with polydactyly

Cleft palate Micromelia Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

746
(67.0%)

genito-palato-cardiac syndrome

Cleft palate Cleft upper lip Micrognathia

Autosomal recessive inheritance

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.

746
(67.0%)

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Cleft palate Cleft upper lip Micrognathia

Sporadic

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.

746
(67.0%)

Vici syndrome

Cleft palate Cleft upper lip Micrognathia

Autosomal recessive inheritance

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

749
(67.0%)

Eiken syndrome

Fibular hypoplasia Skeletal dysplasia

Autosomal recessive inheritance

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

750
(66.9%)

psychomotor retardation, epilepsy, and craniofacial dysmorphism

Broad jaw Broad thumb Short palm Wide mouth

Autosomal recessive inheritance

751
(66.9%)

Koolen de Vries syndrome

Arachnodactyly Cleft upper lip Epicanthus Microcephaly

Autosomal dominant inheritance Contiguous gene syndrome

Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.

752
(66.9%)

XY type gonadal dysgenesis-associated anomalies syndrome

Acromelia Cleft upper lip Oral cleft

Autosomal recessive inheritance

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.

753
(66.8%)

thumb deformity (disease)

Abnormality of the cardiovascular system Aplasia/Hypoplasia of the thumb

753
(66.8%)

acrorenal syndrome

Hand oligodactyly

Autosomal dominant inheritance

Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.

753
(66.8%)

XK aprosencephaly

Hand oligodactyly

Autosomal recessive inheritance

XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.

753
(66.8%)

tetramelic monodactyly

Hand monodactyly Split hand

Autosomal dominant inheritance

Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.

753
(66.8%)

heart-hand syndrome, Slovenian type

Aplasia of the middle phalanx of the hand Brachydactyly

Autosomal dominant inheritance

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

753
(66.8%)

split hand-foot malformation 6

Hand oligodactyly Split hand

Autosomal recessive inheritance

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.

753
(66.8%)

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Abnormality of the genitourinary system Aphalangy of hands and feet

Autosomal recessive inheritance

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

753
(66.8%)

Karsch-Neugebauer syndrome

Hand monodactyly Strabismus

Autosomal dominant inheritance

Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.

753
(66.8%)

mesoaxial synostotic syndactyly with phalangeal reduction

Aplasia/Hypoplasia of the hallux Aplasia/Hypoplasia of the thumb Single transverse palmar crease

Autosomal recessive inheritance

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

753
(66.8%)

angioosteohypertrophic syndrome

Glaucoma Hand oligodactyly

Sporadic

Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.

763
(66.7%)

metaphyseal chondrodysplasia, Jansen type

Choanal stenosis Clinodactyly of the 5th finger Micrognathia Misalignment of teeth Short long bone

Autosomal dominant inheritance

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

764
(66.7%)

vitamin K-dependent clotting factors, combined deficiency of, type 1

Epistaxis Short distal phalanx of finger

Autosomal recessive inheritance

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

764
(66.7%)

skeletal dysplasia-intellectual disability syndrome

Short middle phalanx of finger Wide nasal bridge

X-linked inheritance

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.

764
(66.7%)

X-linked chondrodysplasia punctata 1

Short distal phalanx of finger Short nasal septum

X-linked recessive inheritance

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.

764
(66.7%)

osteochondritis dissecans (disease)

Frontal bossing Short thumb

Autosomal dominant inheritance

Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.

764
(66.7%)

spondylometaphyseal dysplasia, Golden type

Coarse facial features Short finger

X-linked inheritance X-linked dominant inheritance

Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.

769
(66.6%)

short-rib thoracic dysplasia 8 with or without polydactyly

Brachydactyly Depressed nasal bridge Short long bone Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

770
(66.5%)

Joubert syndrome 10

Deep philtrum Epicanthus Macrocephaly Postaxial polydactyly

X-linked recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.

770
(66.5%)

Alazami-Yuan syndrome

Broad hallux Long eyelashes Microcephaly Thin upper lip vermilion

Autosomal recessive inheritance

770
(66.5%)

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Clinodactyly Epicanthus Microcephaly Thin upper lip vermilion

Autosomal dominant inheritance

770
(66.5%)

megalencephaly-capillary malformation-polymicrogyria syndrome

Epicanthus Progressive macrocephaly Smooth philtrum Syndactyly

Somatic mutation Sporadic

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

770
(66.5%)

sialuria

Epicanthus Frontal bossing Long hallux Thin upper lip vermilion

Autosomal dominant inheritance

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

775
(66.5%)

developmental malformations-deafness-dystonia syndrome

Cleft palate Cleft upper lip Hypoplastic scapulae

Autosomal dominant inheritance

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

776
(66.5%)

connective tissue disorder due to lysyl hydroxylase-3 deficiency

Hypoplasia of the capital femoral epiphysis Long philtrum Malar flattening Shallow orbits Thenar muscle atrophy

Autosomal recessive inheritance

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

777
(66.4%)

acrodysostosis 2 with or without hormone resistance

Malar flattening Mandibular prognathia Short metacarpal Short metatarsal

Autosomal dominant inheritance

Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.

778
(66.3%)

Al-Raqad syndrome

Brachydactyly Microcephaly Narrow mouth Thin upper lip vermilion

Autosomal recessive inheritance

779
(66.3%)

severe combined immunodeficiency due to DNA-PKcs deficiency

Microcephaly Overlapping fingers Thin upper lip vermilion

Autosomal recessive inheritance

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

780
(66.3%)

velocardiofacial syndrome

Abnormality of the hand Blepharophimosis Retrognathia Submucous cleft hard palate

Autosomal dominant inheritance

A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.

781
(66.3%)

arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

Brachydactyly Cleft palate Micrognathia

Autosomal dominant inheritance

781
(66.3%)

Loeys-Dietz syndrome 2

Brachydactyly Cleft palate Micrognathia

Autosomal dominant inheritance Heterogeneous

A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.

783
(66.2%)

otofacioosseous-gonadal syndrome

Epicanthus Malar flattening Short hallux

Autosomal recessive inheritance

783
(66.2%)

chromosome 16p13.3 duplication syndrome

Malar flattening Short toe Upslanted palpebral fissure

Autosomal dominant inheritance Sporadic

16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.

785
(66.2%)

cleft palate-stapes fixation-oligodontia syndrome

Cleft soft palate Short hallux

Autosomal recessive inheritance

Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.

786
(66.2%)

cortical blindness-intellectual disability-polydactyly syndrome

Long philtrum Microretrognathia

Autosomal recessive inheritance

This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.

786
(66.2%)

faciothoracogenital syndrome

Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

786
(66.2%)

trismus-pseudocamptodactyly syndrome

Deep philtrum Facial asymmetry Micrognathia

Autosomal dominant inheritance

786
(66.2%)

cataract - congenital heart disease - neural tube defect syndrome

Micrognathia Short philtrum Thick lower lip vermilion

Autosomal recessive inheritance

Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.

786
(66.2%)

Keppen-Lubinsky syndrome

Micrognathia Open mouth Short philtrum

Autosomal dominant inheritance

786
(66.2%)

faciocardiorenal syndrome

Cleft palate Hypoplastic philtrum Micrognathia

Autosomal recessive inheritance

Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.

786
(66.2%)

chromosome 1p35 deletion syndrome

Micrognathia Narrow mouth Thin upper lip vermilion

Autosomal dominant inheritance

786
(66.2%)

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

High palate Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

786
(66.2%)

congenital muscular dystrophy with intellectual disability and severe epilepsy

High palate Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

786
(66.2%)

Perlman syndrome

Micrognathia Open mouth Tented upper lip vermilion

Autosomal recessive inheritance

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

786
(66.2%)

X-linked lissencephaly with abnormal genitalia

High palate Micrognathia Thin upper lip vermilion

X-linked inheritance

X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.

786
(66.2%)

cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Long philtrum Malar flattening Micrognathia

Autosomal recessive inheritance

A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13

786
(66.2%)

pseudo-TORCH syndrome 1

High palate Long philtrum Microretrognathia

Autosomal recessive inheritance

786
(66.2%)

hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Micrognathia Thin upper lip vermilion Wide mouth

Autosomal recessive inheritance

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.

786
(66.2%)

DYRK1A-related intellectual disability syndrome

Micrognathia Thick lower lip vermilion Thin upper lip vermilion

Autosomal dominant inheritance

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.