181 (76.2%)
|
Distal monosomy 17q
|
Abnormality of the philtrum
Aplasia/Hypoplasia of the thumb
Micromelia
Upslanted palpebral fissure
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.
Orphanet:1597
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|
182 (76.2%)
|
Aicardi syndrome
|
Cleft upper lip
Missing ribs
Small hand
Sparse lateral eyebrow
X-linked dominant inheritance
A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
Orphanet:50
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KEGG:H01776
Gene Reviews
GTR:C0175713
|
183 (76.1%)
|
2q32q33 microdeletion syndrome
|
Arachnodactyly
Broad thumb
Downslanted palpebral fissures
Long philtrum
Micrognathia
Autosomal dominant inheritance
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
Orphanet:251019
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KEGG:H02146
Gene Reviews
GTR:C2676739
|
183 (76.1%)
|
3p25.3 microdeletion syndrome
|
Broad thumb
Epicanthus
Micrognathia
Tapered finger
Thin upper lip vermilion
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
Orphanet:435638
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|
185 (76.1%)
|
Antley-Bixler syndrome
|
Downslanted palpebral fissures
Long philtrum
Proximal femoral focal deficiency
Radioulnar synostosis
A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Orphanet:83
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GTR:C0265307
GTR:C2936791
|
186 (76.1%)
|
Tetrasomy 12p
|
Micromelia
Short femur
Telecanthus
Thick upper lip vermilion
Somatic mosaicism
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
Orphanet:884
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GTR:C0265449
|
187 (76.0%)
|
Multiple osteochondromas
|
Abnormality of the dentition
Hypoplasia of the ulna
Micrognathia
Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
Orphanet:321
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GTR:C0206641
GTR:C0015306
|
188 (76.0%)
|
Crossed polysyndactyly
|
Abnormality of the philtrum
Aplasia/Hypoplasia of the thumb
Upslanted palpebral fissure
Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.
Orphanet:2935
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GTR:C1867999
|
189 (75.9%)
|
Sheldon-Hall syndrome
|
Aplasia/Hypoplasia of the radius
Epicanthus
High palate
Micrognathia
Overlapping fingers
Autosomal dominant inheritance
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Orphanet:1147
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GTR:C1834523
|
190 (75.9%)
|
Wilson-Turner syndrome
|
Micrognathia
Small hand
Thick eyebrow
Thin upper lip vermilion
X-linked recessive inheritance
X-linked dominant inheritance
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Orphanet:3459
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KEGG:H02267
GTR:C1839736
|
191 (75.9%)
|
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
|
Downslanted palpebral fissures
Long philtrum
Retrognathia
Short palm
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).
Orphanet:73246
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|
192 (75.8%)
|
Down syndrome
|
Brachydactyly
Epicanthus
Short femur
Thick lower lip vermilion
Sporadic
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Orphanet:870
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KEGG:H01552
GTR:C0013080
|
193 (75.7%)
|
Urban-Rogers-Meyer syndrome
|
Abnormality of the philtrum
Brachydactyly
Epicanthus
Micrognathia
Short foot
Autosomal recessive inheritance
This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
Orphanet:3409
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GTR:C0796189
|
193 (75.7%)
|
Temtamy syndrome
|
Brachydactyly
Long philtrum
Micrognathia
Short toe
Telecanthus
Autosomal recessive inheritance
Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Orphanet:1777
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GTR:C1857512
|
193 (75.7%)
|
Autosomal recessive faciodigitogenital syndrome
|
Brachydactyly
Long philtrum
Micrognathia
Short foot
Telecanthus
Autosomal recessive inheritance
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
Orphanet:1974
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GTR:C1856871
|
193 (75.7%)
|
Tetrasomy 5p
|
Long philtrum
Micrognathia
Short hallux
Upslanted palpebral fissure
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
Orphanet:3309
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|
197 (75.7%)
|
Trisomy 12p
|
Epicanthus
Everted lower lip vermilion
Genu valgum
Large hands
Micrognathia
A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.
Orphanet:1699
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GTR:C0795845
|
198 (75.6%)
|
Kindler syndrome
|
Cheilitis
Ectropion
Short 4th metacarpal
Autosomal recessive inheritance
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Orphanet:2908
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KEGG:H00588
Gene Reviews
GTR:C0406557
|
198 (75.6%)
|
2q37 microdeletion syndrome
|
Short foot
Short metacarpal
Short palm
Thin vermilion border
Upslanted palpebral fissure
Autosomal dominant inheritance
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
Orphanet:1001
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KEGG:H00561
GTR:C2931817
|
200 (75.4%)
|
4q21 microdeletion syndrome
|
Long eyelashes
Micromelia
Short foot
Short palm
Short philtrum
Sporadic
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
Orphanet:238750
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|
201 (75.2%)
|
1p36 deletion syndrome
|
11 pairs of ribs
Brachydactyly
Epicanthus
Long philtrum
Short foot
Sporadic
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Orphanet:1606
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KEGG:H01792
GTR:C1842870
|
202 (75.2%)
|
Ulnar/fibula ray defect-brachydactyly syndrome
|
Aplasia/Hypoplasia of the ulna
Malar flattening
Short 5th finger
Short foot
Autosomal dominant inheritance
Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
Orphanet:52056
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GTR:C1837830
|
203 (75.2%)
|
CHST3-related skeletal dysplasia
|
Highly arched eyebrow
Long philtrum
Rhizomelia
Short metacarpal
Autosomal recessive inheritance
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Orphanet:263463
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KEGG:H00762
Gene Reviews
GTR:C2931649
|
204 (75.2%)
|
Osteogenesis imperfecta
|
Brachydactyly
Median cleft lip
Micrognathia
Short long bone
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Orphanet:666
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GTR:C0023931
GTR:C0268360
GTR:C1859069
GTR:C0029434
|
205 (75.2%)
|
Microtriplication 11q24.1
|
Long eyelashes
Short foot
Small hand
Smooth philtrum
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
Orphanet:289522
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|
205 (75.2%)
|
X-linked intellectual disability, Cabezas type
|
Epicanthus
Short foot
Short palm
Short philtrum
X-linked recessive inheritance
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.
Orphanet:85293
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GTR:C1845861
|
205 (75.2%)
|
Hypertelorism, Teebi type
|
Downslanted palpebral fissures
Long philtrum
Short toe
Small hand
Autosomal dominant inheritance
Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).
Orphanet:1519
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GTR:C1840378
|
205 (75.2%)
|
19p13.12 microdeletion syndrome
|
Epicanthus
Long philtrum
Short palm
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Orphanet:254346
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|
209 (75.1%)
|
8p23.1 microdeletion syndrome
|
Broad thumb
Epicanthus
Micrognathia
Tapered finger
Thin vermilion border
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Orphanet:251071
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|
210 (75.1%)
|
1q21.1 microdeletion syndrome
|
Broad thumb
Epicanthus
Long philtrum
Short foot
Autosomal dominant inheritance
Sporadic
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Orphanet:250989
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GTR:C2675897
|
211 (75.0%)
|
CHAND syndrome
|
Ankyloblepharon
Commissural lip pit
Short fifth metatarsal
Autosomal recessive inheritance
Orphanet:1401
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GTR:C0406733
|
212 (75.0%)
|
Autosomal recessive multiple pterygium syndrome
|
Epicanthus
Long philtrum
Micrognathia
Patellar aplasia
Autosomal recessive inheritance
Orphanet:2990
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KEGG:H00986
|
213 (75.0%)
|
Madelung deformity
|
Hypoplasia of the radius
Micromelia
Nephropathy
Short 4th metacarpal
Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.
Orphanet:35688
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GTR:C0152441
|
214 (74.9%)
|
Spondyloepiphyseal dysplasia, Nishimura type
|
Epicanthus
Hemiatrophy of upper limb
Long philtrum
Micrognathia
Slender finger
Autosomal recessive inheritance
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Orphanet:163649
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GTR:C1865134
|
214 (74.9%)
|
Distal trisomy 17q
|
Epicanthus
Hand polydactyly
Micrognathia
Rhizomelia
Thin upper lip vermilion
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
Orphanet:3379
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GTR:C2931247
|
216 (74.9%)
|
Schwartz-Jampel syndrome
|
Blepharophimosis
Long philtrum
Micrognathia
Micromelia
Autosomal recessive inheritance
A rare syndrome characterised by myotonia and osteoarticular abnormalities.
Orphanet:800
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KEGG:H01777
GTR:C0036391
|
217 (74.9%)
|
Spondyloepimetaphyseal dysplasia, Irapa type
|
Micromelia
Pectus carinatum
Short palm
Upper limb undergrowth
Autosomal recessive inheritance
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Orphanet:93351
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GTR:C0432213
|
218 (74.9%)
|
Ellis Van Creveld syndrome
|
Abnormality of the dentition
Micromelia
Short distal phalanx of finger
Short ribs
Thin vermilion border
Autosomal recessive inheritance
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Orphanet:289
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KEGG:H00503
GTR:C0013903
|
219 (74.9%)
|
Atypical Werner syndrome
|
Aplasia/Hypoplasia of the eyebrow
Micrognathia
Short palm
Thin vermilion border
An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
Orphanet:79474
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|
220 (74.8%)
|
Congenital glaucoma
|
Entropion
Glossoptosis
Micrognathia
Short finger
A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.
Orphanet:98976
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GTR:C0020302
|
221 (74.8%)
|
Maxillonasal dysplasia
|
Broad philtrum
Cleft palate
Retrognathia
Short distal phalanx of finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Heterogeneous
Multifactorial inheritance
Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.
Orphanet:1248
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GTR:C0220692
GTR:C3888567
|
222 (74.7%)
|
Acrofacial dysostosis, Rodríguez type
|
Aplasia/Hypoplasia of the ulna
Hand oligodactyly
Malar flattening
Microretrognathia
Autosomal recessive inheritance
A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.
Orphanet:1788
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GTR:C1860119
|
223 (74.7%)
|
48,XXYY syndrome
|
Broad jaw
Clinodactyly of the 5th finger
Epicanthus
Radioulnar synostosis
Thick lower lip vermilion
A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.
Orphanet:10
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GTR:C2936741
|
224 (74.7%)
|
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
|
Arachnodactyly
Broad thumb
Downslanted palpebral fissures
Retrognathia
Thin upper lip vermilion
Orphanet:505237
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|
225 (74.7%)
|
20p12.3 microdeletion syndrome
|
Broad thumb
Epicanthus
Hypoplasia of the maxilla
Long philtrum
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
Orphanet:261295
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|
226 (74.6%)
|
Craniofrontonasal dysplasia
|
Brachydactyly
Broad thumb
Congenital pseudoarthrosis of the clavicle
Downslanted palpebral fissures
Oral cleft
X-linked dominant inheritance
Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
Orphanet:1520
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KEGG:H01992
GTR:C0220767
|
227 (74.6%)
|
Frank-Ter Haar syndrome
|
Abnormality of the metacarpal bones
Brachydactyly
Downslanted palpebral fissures
Mandibular prognathia
Short philtrum
Autosomal recessive inheritance
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Orphanet:137834
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KEGG:H01816
GTR:C1855305
|
228 (74.6%)
|
Intellectual disability-balding-patella luxation-acromicria syndrome
|
Acromesomelia
Epicanthus
Short toe
Thin upper lip vermilion
X-linked recessive inheritance
Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
Orphanet:3041
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GTR:C1866985
|
229 (74.5%)
|
Tetrasomy 18p
|
Epicanthus
Large hands
Long philtrum
Retrognathia
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
Orphanet:3307
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GTR:C0795868
|
230 (74.5%)
|
16p11.2p12.2 microdeletion syndrome
|
Epicanthus
Microretrognathia
Oral cleft
Short palm
Sporadic
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Orphanet:261211
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|
231 (74.5%)
|
Tetraploidy
|
Cleft palate
Micrognathia
Radial club hand
Short philtrum
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.
Orphanet:3305
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GTR:C0333694
|
232 (74.4%)
|
Microlissencephaly-micromelia syndrome
|
11 pairs of ribs
Adducted thumb
Long philtrum
Micromelia
Palpebral edema
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Orphanet:50810
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232 (74.4%)
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Wiedemann-Steiner syndrome
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Aplasia/Hypoplasia of the ribs
Rhizomelia
Tapered finger
Telecanthus
Thin upper lip vermilion
Autosomal dominant inheritance
X-linked recessive inheritance
Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.
Orphanet:319182
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KEGG:H01879
GTR:C1854630
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234 (74.4%)
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Genitopalatocardiac syndrome
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Brachydactyly
Downslanted palpebral fissures
Micrognathia
Non-midline cleft lip
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.
Orphanet:2075
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GTR:C1856466
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234 (74.4%)
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Trisomy 8q
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Brachydactyly
Micrognathia
Non-midline cleft lip
Upslanted palpebral fissure
A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.
Orphanet:1752
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GTR:C0795829
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234 (74.4%)
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Trisomy 9p
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Brachydactyly
Epicanthus
Micrognathia
Non-midline cleft lip
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
Orphanet:236
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GTR:C0265428
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234 (74.4%)
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Smith-Magenis syndrome
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Brachydactyly
Cleft upper lip
Micrognathia
Telecanthus
Autosomal dominant inheritance
Sporadic
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Orphanet:819
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KEGG:H01791
Gene Reviews
GTR:C0795864
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234 (74.4%)
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Bifid uvula
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Brachydactyly
Microretrognathia
Telecanthus
Unilateral cleft lip
Autosomal dominant inheritance
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
Orphanet:99771
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GTR:C0266122
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239 (74.4%)
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Oculoauriculovertebral spectrum with radial defects
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Aplasia/Hypoplasia of the thumb
Non-midline cleft lip
Short mandibular rami
Wide mouth
Autosomal dominant inheritance
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Orphanet:2549
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GTR:C0220681
GTR:C0265240
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240 (74.4%)
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EEC syndrome
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Aplasia/Hypoplasia of the thumb
Blepharitis
Cleft lip
Autosomal recessive inheritance
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
Orphanet:1896
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GTR:C1851841
GTR:C0406704
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