786
(66.2%)

mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Long philtrum Microretrognathia

Autosomal recessive inheritance

A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

786
(66.2%)

Gaucher disease perinatal lethal

Everted upper lip vermilion Micrognathia Narrow mouth

Autosomal recessive inheritance

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).

803
(66.2%)

SHORT syndrome

Enlarged epiphyses Hypodontia Micrognathia Radial deviation of finger Telecanthus

Autosomal dominant inheritance

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

804
(66.2%)

X-linked spondyloepimetaphyseal dysplasia

Hypoplasia of the maxilla Long ulna Short clavicles Short palm

X-linked recessive inheritance

X-linked form of spondyloepimetaphyseal dysplasia.

805
(66.2%)

tricho-oculo-dermo-vertebral syndrome

Blepharophimosis Brachycephaly Cleft upper lip Joint contracture of the hand

Autosomal recessive inheritance

806
(66.1%)

wrinkly skin syndrome

Deep palmar crease Epicanthus Microcephaly Slender long bone Smooth philtrum

Autosomal recessive inheritance

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

807
(66.1%)

chromosome 10q23 deletion syndrome

Arachnodactyly Macrocephaly Thin upper lip vermilion Upslanted palpebral fissure

Contiguous gene syndrome

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

807
(66.1%)

progeroid facial appearance with hand anomalies

Arachnodactyly Blepharophimosis Microcephaly Short philtrum

Autosomal dominant inheritance

807
(66.1%)

syndactyly-telecanthus-anogenital and renal malformations syndrome

Clinodactyly of the 5th finger Craniosynostosis Telecanthus Thin upper lip vermilion

X-linked dominant inheritance

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

807
(66.1%)

Fanconi anemia, complementation group S

Epicanthus Microcephaly Proximal placement of thumb Thick upper lip vermilion

Autosomal recessive inheritance

807
(66.1%)

Ehlers-Danlos syndrome, musculocontractural type 2

Arachnodactyly Brachycephaly Downslanted palpebral fissures Long philtrum

Autosomal recessive inheritance

Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.

807
(66.1%)

microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Deviation of the 5th finger Downslanted palpebral fissures Microcephaly Tented upper lip vermilion

Autosomal dominant inheritance

807
(66.1%)

neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Clinodactyly of the 5th finger Epicanthus Long philtrum Microcephaly

Autosomal recessive inheritance

807
(66.1%)

KBG syndrome

Long philtrum Microcephaly Radial deviation of finger Single transverse palmar crease Telecanthus

Autosomal dominant inheritance

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

807
(66.1%)

neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Microcephaly Single transverse palmar crease Tapered finger Tented upper lip vermilion Upslanted palpebral fissure

Autosomal dominant inheritance

807
(66.1%)

Pitt-Hopkins syndrome

Microcephaly Short philtrum Single transverse palmar crease Tapered finger Upslanted palpebral fissure

Autosomal dominant inheritance

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

807
(66.1%)

hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Brachycephaly Epicanthus Tapered finger Thin upper lip vermilion

Autosomal recessive inheritance

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.

807
(66.1%)

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Downslanted palpebral fissures Progressive microcephaly Tapered finger Thin upper lip vermilion

Autosomal dominant inheritance

819
(66.1%)

holoprosencephaly 9

Bilateral cleft lip and palate Hypoplasia of the maxilla Malar flattening Postaxial hand polydactyly

Autosomal dominant inheritance Sporadic

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.

820
(66.1%)

RHYNS syndrome

Brachydactyly Radial bowing Short femoral neck Thickened calvaria

Autosomal recessive inheritance

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.

821
(66.1%)

MEND syndrome

High palate Microretrognathia Overlapping fingers

X-linked recessive inheritance

822
(66.1%)

ophthalmomandibulomelic dysplasia

Fibular hypoplasia Radial bowing Temporomandibular joint ankylosis

Autosomal dominant inheritance

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

823
(66.0%)

schneckenbecken dysplasia

Brachydactyly Cleft palate Dumbbell-shaped long bone Short ribs

Autosomal recessive inheritance

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

823
(66.0%)

spondyloepimetaphyseal dysplasia, Strudwick type

Brachydactyly Cleft palate Genu valgum Hypoplasia of the odontoid process

Autosomal dominant inheritance

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

825
(66.0%)

craniofaciofrontodigital syndrome

Coarse facial features Hypoplastic vertebral bodies Long philtrum Palmoplantar cutis laxa

Autosomal dominant inheritance Sporadic

Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).

826
(66.0%)

Toriello-Lacassie-Droste syndrome

Epicanthus Eyelid coloboma Lower limb asymmetry Parietal bossing

Autosomal dominant inheritance Somatic mutation

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

827
(65.9%)

Smith-McCort dysplasia 2

Hypoplasia of the odontoid process Short metacarpal Short metatarsal Short neck

Autosomal recessive inheritance

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.

828
(65.9%)

microcephaly 16, primary, autosomal recessive

Adducted thumb Micrognathia Open mouth Telecanthus

Autosomal recessive inheritance

828
(65.9%)

Seckel syndrome 5

Clinodactyly of the 5th finger Downslanted palpebral fissures High palate Micrognathia

Autosomal recessive inheritance

Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.

828
(65.9%)

cutis laxa, autosomal recessive, type 1B

Arachnodactyly Downslanted palpebral fissures High palate Micrognathia

Autosomal recessive inheritance

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.

828
(65.9%)

Warburg micro syndrome 3

Blepharophimosis Clinodactyly of the 5th finger Micrognathia Narrow palate

Autosomal recessive inheritance

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.

828
(65.9%)

Galloway-Mowat syndrome 3

Arachnodactyly Epicanthus Micrognathia Narrow mouth

Autosomal recessive inheritance

828
(65.9%)

Marfan syndrome

Arachnodactyly Downslanted palpebral fissures Micrognathia Narrow palate

Autosomal dominant inheritance

Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.

834
(65.8%)

multicentric osteolysis, nodulosis, and arthropathy

Gingival overgrowth Interphalangeal joint erosions Micrognathia Widened metacarpal shaft

Autosomal recessive inheritance

A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.

835
(65.7%)

humerofemoral hypoplasia with radiotibial ray deficiency

Absent thumb Hypoplastic scapulae Prominent glabella

Autosomal recessive inheritance

836
(65.7%)

brachydactyly, type E, with atrial septal defect, type 2

Round face Short 4th metacarpal Short metatarsal

Autosomal dominant inheritance

836
(65.7%)

chondrodysplasia punctata, tibial-metacarpal type

Malar flattening Micromelia Short 2nd metacarpal Short tibia

Autosomal dominant inheritance

838
(65.7%)

Silverman-Handmaker type dyssegmental dysplasia

Micrognathia Narrow mouth Short long bone

Autosomal recessive inheritance

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

839
(65.7%)

epiphyseal dysplasia, multiple, 2

Short palm Waddling gait

Autosomal dominant inheritance

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.

839
(65.7%)

Lopes-Maciel-Rodan syndrome

Myopia Short foot Small hand

Autosomal recessive inheritance

839
(65.7%)

hereditary spastic paraplegia 9A

Carpal bone hypoplasia Urinary urgency

Autosomal dominant inheritance Genetic anticipation

842
(65.7%)

pycnodysostosis

Brachydactyly Micrognathia Narrow palate Osteolytic defects of the distal phalanges of the hand

Autosomal recessive inheritance

Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.

843
(65.7%)

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Brachycephaly Cleft palate Upper eyelid coloboma

Autosomal recessive inheritance

844
(65.6%)

trichohepatoneurodevelopmental syndrome

Macroglossia Short foot Synophrys

Autosomal recessive inheritance

845
(65.5%)

neurofibromatosis-Noonan syndrome

Cubitus valgus Epicanthus Malar flattening Thick vermilion border

Autosomal dominant inheritance

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).

846
(65.5%)

mesomelic dwarfism, Nievergelt type

Mesomelia Metatarsal synostosis Radioulnar synostosis

Autosomal dominant inheritance

847
(65.5%)

hypophosphatemia, renal, with intracerebral calcifications

Premature anterior fontanel closure Short distal phalanx of finger

Autosomal recessive inheritance

847
(65.5%)

craniosynostosis, Adelaide type

Craniosynostosis Shortening of all middle phalanges of the fingers

Autosomal dominant inheritance

847
(65.5%)

brachydactyly, type A2, with microcephaly

Microcephaly Thumbs hypoplastic with bulbous tips

Autosomal recessive inheritance

847
(65.5%)

Feingold syndrome type 2

Microcephaly Short middle phalanx of finger

Autosomal dominant inheritance

Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

847
(65.5%)

bullous dystrophy, macular type

Microcephaly Short finger

X-linked inheritance

Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.

847
(65.5%)

symphalangism with multiple anomalies of hands and feet

Macrocephaly Short thumb

Autosomal dominant inheritance

Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.

847
(65.5%)

Fanconi anemia complementation group D1

Microcephaly Short thumb

Autosomal recessive inheritance

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

847
(65.5%)

facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Macrocephaly Shortening of all distal phalanges of the fingers

Autosomal recessive inheritance

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.

855
(65.4%)

Schwartz-Jampel syndrome

Blepharophimosis Joint contracture of the hand Metaphyseal widening Micrognathia Narrow mouth

Autosomal recessive inheritance

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

855
(65.4%)

peroxisome biogenesis disorder 1A (Zellweger)

Epicanthus Epiphyseal stippling Macroglossia Micrognathia Single transverse palmar crease

Autosomal recessive inheritance Heterogeneous

857
(65.4%)

microcephaly 13, primary, autosomal recessive

Micrognathia Round face Small hand

Autosomal recessive inheritance

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.

858
(65.4%)

acrocephalopolydactyly

Epicanthus Micromelia Postaxial hand polydactyly

Autosomal recessive inheritance

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.

859
(65.4%)

colobomatous microphthalmia-rhizomelic dysplasia syndrome

Epicanthus Rhizomelia

Autosomal dominant inheritance Autosomal recessive inheritance

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

859
(65.4%)

chondrodysplasia punctata 2, X-linked dominant

Downslanted palpebral fissures Hemiatrophy Malar flattening

X-linked dominant inheritance

861
(65.4%)

Prieto syndrome

11 pairs of ribs Abnormality of the dentition Epicanthus Radial deviation of finger

X-linked recessive inheritance

This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.

862
(65.4%)

neurodevelopmental disorder and language delay with or without structural brain abnormalities

Epicanthus Microcephaly Short philtrum Single transverse palmar crease

Autosomal dominant inheritance

862
(65.4%)

autism spectrum disorder due to AUTS2 deficiency

Brachycephaly Decreased palmar creases Downslanted palpebral fissures Short philtrum

Autosomal dominant inheritance

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

862
(65.4%)

Teebi-Shaltout syndrome

Microcephaly Single transverse palmar crease Smooth philtrum Telecanthus

Autosomal recessive inheritance

Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.

865
(65.4%)

spondyloepimetaphyseal dysplasia, matrilin-3 type

Micromelia Posterior rib cupping Short long bone

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

866
(65.3%)

hereditary spastic paraplegia 50

Adducted thumb Mandibular prognathia Short philtrum Wide mouth

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.

866
(65.3%)

syndromic X-linked intellectual disability Snyder type

Cleft palate Hyperextensibility of the finger joints Mandibular prognathia Short philtrum

X-linked recessive inheritance

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.

868
(65.3%)

cardiac anomalies - developmental delay - facial dysmorphism syndrome

Brachycephaly Clinodactyly Everted lower lip vermilion Upslanted palpebral fissure

Autosomal dominant inheritance

869
(65.3%)

heart and brain malformation syndrome

Hand clenching Microcephaly Thick lower lip vermilion

Autosomal recessive inheritance

870
(65.2%)

chromosome 1q41-q42 deletion syndrome

Cleft upper lip Microcephaly Talipes equinovarus Upslanted palpebral fissure

Autosomal dominant inheritance Sporadic

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

871
(65.2%)

microcephaly-deafness-intellectual disability syndrome

Everted lower lip vermilion Micrognathia

Autosomal dominant inheritance

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

871
(65.2%)

Meier-Gorlin syndrome 8

Micrognathia Narrow mouth Thick vermilion border

Autosomal recessive inheritance

871
(65.2%)

Hurler-Scheie syndrome

Depressed nasal bridge Micrognathia Thick vermilion border

Autosomal recessive inheritance

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

871
(65.2%)

ALG1-CDG

Micrognathia Thin vermilion border

Autosomal recessive inheritance

A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

871
(65.2%)

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Everted lower lip vermilion Micrognathia

Autosomal recessive inheritance Heterogeneous

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.

876
(65.2%)

aspartylglucosaminuria

Hypoplastic frontal sinuses Thick lower lip vermilion Wide mouth

Autosomal recessive inheritance

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

877
(65.2%)

osteogenesis imperfecta, type 18

Abnormality of the dentition Femoral bowing Long eyelashes Micrognathia

Autosomal recessive inheritance

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).

877
(65.2%)

peroxisome biogenesis disorder 10A (Zellweger)

Epicanthus Epiphyseal stippling High palate Micrognathia

Autosomal recessive inheritance

877
(65.2%)

bone marrow failure syndrome 3

Epicanthus Hypodontia Metaphyseal dysplasia Micrognathia

Autosomal recessive inheritance

Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.

880
(65.2%)

mandibulofacial dysostosis with ptosis, autosomal dominant

Dental malocclusion Downslanted palpebral fissures Joint contracture of the hand Micrognathia

Autosomal dominant inheritance

881
(65.2%)

craniometadiaphyseal dysplasia, wormian bone type

Absent paranasal sinuses Downslanted palpebral fissures Genu valgum High palate

Autosomal recessive inheritance

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.

882
(65.1%)

Smith-McCort dysplasia 1

Hypoplastic scapulae Microcephaly Short metacarpal

Autosomal recessive inheritance

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.

883
(65.1%)

autosomal dominant primary microcephaly

Broad thumb Microcephaly Overbite Upslanted palpebral fissure

Autosomal dominant inheritance

Autosomal dominant form of microcephaly (disease).

883
(65.1%)

hypertelorism-hypospadias-polysyndactyly syndrome

Brachycephaly Broad thumb Downslanted palpebral fissures Hand polydactyly High palate

Autosomal recessive inheritance

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

885
(65.1%)

Ito hypomelanosis

Epicanthus Hand polydactyly Microcephaly Thick lower lip vermilion

Heterogeneous Somatic mosaicism

Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.

885
(65.1%)

severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Arachnodactyly Downslanted palpebral fissures Everted lower lip vermilion Microcephaly

Autosomal dominant inheritance

887
(65.0%)

short stature-valvular heart disease-characteristic facies syndrome

Abnormality of the dentition Short lower limbs Short palm

Autosomal dominant inheritance

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

888
(65.0%)

Boomerang dysplasia

Absent radius Fibular aplasia Underdeveloped nasal alae

Autosomal dominant inheritance

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

888
(65.0%)

laurin-Sandrow syndrome

Abnormality of the face Absent radius Short foot

Autosomal dominant inheritance

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

890
(64.9%)

chromosome 15q25 deletion syndrome

Cleft upper lip Downslanted palpebral fissures Long fingers Short neck

Autosomal dominant inheritance

891
(64.9%)

Jaberi-Elahi syndrome

Abnormality of the dentition Hand clenching Microcephaly Sparse eyelashes

Autosomal recessive inheritance

891
(64.9%)

Alkuraya-Kucinskas syndrome

Adducted thumb Hand clenching High palate Macrocephaly Upslanted palpebral fissure

Autosomal recessive inheritance

893
(64.9%)

spondylometaphyseal dysplasia, Kozlowski type

Abnormality of the face Carpal bone hypoplasia Hypoplasia of the odontoid process

Autosomal dominant inheritance

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

894
(64.9%)

RIN2 syndrome

Abnormal sternum morphology Brachydactyly Downslanted palpebral fissures Single transverse palmar crease Thick lower lip vermilion

Autosomal recessive inheritance

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.

895
(64.9%)

hypochondroplasia

Aplasia/hypoplasia of the extremities Brachydactyly Malar flattening Short long bone

Autosomal dominant inheritance

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

896
(64.9%)

floating-Harbor syndrome

Clinodactyly of the 5th finger Cone-shaped epiphyses of the phalanges of the hand Long eyelashes Short neck Smooth philtrum

Autosomal dominant inheritance

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

897
(64.9%)

facial hemiatrophy

Blepharophimosis Delayed eruption of teeth Short mandibular rami

Sporadic

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.

897
(64.9%)

blepharophimosis - intellectual disability syndrome, SBBYS type

Epicanthus inversus Microdontia Micrognathia

Autosomal dominant inheritance

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

897
(64.9%)

myopathy, lactic acidosis, and sideroblastic anemia 1

Distichiasis High palate Micrognathia

Autosomal recessive inheritance

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.

897
(64.9%)

chromosome 22q11.2 microduplication syndrome

Epicanthus High palate Micrognathia

Autosomal dominant inheritance Sporadic

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.