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Total: 4,609 results


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Rank
(Similarity)
Disease Name
Matched Phenotype  Causative Gene  Modes of Inheritance

241
(74.4%)

Bohring-Opitz syndrome

Cleft upper lip Retrognathia Short foot Upslanted palpebral fissure

Autosomal dominant inheritance Autosomal recessive inheritance

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

Orphanet:97297       Find images (Google)       Find case reports       Monarch       KEGG:H02047        Gene Reviews       GTR:C0796232

242
(74.4%)

Marden-Walker syndrome

Arachnodactyly Blepharophimosis Cleft palate Micrognathia Radioulnar synostosis

Autosomal dominant inheritance Autosomal recessive inheritance

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Orphanet:2461       Find images (Google)       Find case reports       Monarch       GTR:C0796033

243
(74.4%)

Lenz-Majewski hyperostotic dwarfism

Abnormal nasolacrimal system morphology Aplastic clavicle Short palm Thick vermilion border

Autosomal dominant inheritance Sporadic

An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Orphanet:2658       Find images (Google)       Find case reports       Monarch       KEGG:H01832        GTR:C0432269

244
(74.3%)

Tall stature-intellectual disability-facial dysmorphism syndrome

Deep philtrum Mandibular prognathia Narrow palpebral fissure Short toe

Autosomal dominant inheritance

Orphanet:404443       Find images (Google)       Find case reports       Monarch       KEGG:H02294       

245
(74.3%)

Somatomammotropinoma

Cortical diaphyseal thickening of the upper limbs Large hands Mandibular prognathia Palpebral edema Thick lower lip vermilion

Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.

Orphanet:314769       Find images (Google)       Find case reports       Monarch      

246
(74.2%)

8q21.11 microdeletion syndrome

Abnormality of the metacarpal bones Camptodactyly of finger Epicanthus Micrognathia Short philtrum

Autosomal dominant inheritance Sporadic

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.

Orphanet:284160       Find images (Google)       Find case reports       Monarch      

247
(74.1%)

Histidinuria-renal tubular defect syndrome

Long philtrum Short middle phalanx of finger

Orphanet:2158       Find images (Google)       Find case reports       GTR:C0268642

248
(74.0%)

Abruzzo-Erickson syndrome

Brachydactyly Cleft palate Epicanthus Radioulnar synostosis Short toe

X-linked inheritance X-linked recessive inheritance

An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

Orphanet:921       Find images (Google)       Find case reports       Monarch       GTR:C1844862

249
(74.0%)

Absent radius-anogenital anomalies syndrome

Hypoplasia of the radius Rectovaginal fistula

X-linked inheritance

A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.

Orphanet:3016       Find images (Google)       Find case reports       Monarch       GTR:C1839410

249
(74.0%)

Mesomelic dysplasia, Savarirayan type

Fibular aplasia Hypoplasia of proximal radius Intellectual disability

Autosomal dominant inheritance

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

Orphanet:85170       Find images (Google)       Find case reports       Monarch       GTR:C1854470

251
(74.0%)

Say-Barber-Miller syndrome

Micrognathia Patellar hypoplasia Thin vermilion border Upslanted palpebral fissure

Autosomal recessive inheritance

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

Orphanet:3132       Find images (Google)       Find case reports       Monarch       GTR:C2931267

252
(74.0%)

Ablepharon macrostomia syndrome

Camptodactyly of finger Cryptophthalmos Hypoplasia of the maxilla Thin vermilion border

Autosomal dominant inheritance Autosomal recessive inheritance

An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.

Orphanet:920       Find images (Google)       Find case reports       Monarch       KEGG:H01932        GTR:C1860224

253
(73.9%)

Brachydactyly type B

Cleft lip Short distal phalanx of finger Short foot Short metacarpal

Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.

Orphanet:93383       Find images (Google)       Find case reports       Monarch       GTR:C1300267

254
(73.9%)

20q13.33 microdeletion syndrome

Epicanthus Short lower limbs Smooth philtrum

20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.

Orphanet:261311       Find images (Google)       Find case reports       Monarch      

255
(73.9%)

Trichorhinophalangeal syndrome type 2

Aplasia/Hypoplasia of the mandible Brachydactyly Entropion Genu valgum Thin upper lip vermilion

Autosomal dominant inheritance

A very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

Orphanet:502       Find images (Google)       Find case reports       Monarch       Gene Reviews       GTR:C0023003 GTR:C2931237

256
(73.9%)

Myasthenia gravis

Cheilitis Hemiatrophy Micrognathia Upper eyelid retraction

Multifactorial inheritance

Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.

Orphanet:589       Find images (Google)       Find case reports       Monarch       GTR:C0026896

257
(73.9%)

Retinoblastoma

Absent thumb Cleft palate Hemiatrophy Micrognathia Retinal astrocytic hamartoma

Autosomal dominant inheritance Somatic mutation Sporadic

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Orphanet:790       Find images (Google)       Find case reports       Monarch       Gene Reviews       GTR:C0035335

258
(73.8%)

45,X/46,XY mixed gonadal dysgenesis

Epicanthus High palate Micrognathia Short 4th metacarpal Short metatarsal

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

Orphanet:1772       Find images (Google)       Find case reports       Monarch      

258
(73.8%)

Achondroplasia

Glossitis Micrognathia Short long bone Short metacarpal Telecanthus

Autosomal dominant inheritance

A form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Orphanet:15       Find images (Google)       Find case reports       Monarch       KEGG:H00505 KEGG:H01749        Gene Reviews       GTR:C0001080

260
(73.8%)

Brachydactyly-syndactyly, Zhao type

Short fifth metatarsal Short middle phalanx of the 5th finger Toe syndactyly

Autosomal dominant inheritance

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Orphanet:93409       Find images (Google)       Find case reports       Monarch       KEGG:H00870       

260
(73.8%)

Brachydactyly type C

Abnormal fingernail morphology Short metatarsal Short middle phalanx of finger

Autosomal dominant inheritance Autosomal recessive inheritance

Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

Orphanet:93384       Find images (Google)       Find case reports       Monarch       GTR:C1300268 GTR:C1862103

260
(73.8%)

Hand-foot-genital syndrome

Recurrent urinary tract infections Short first metatarsal Shortening of all middle phalanges of the fingers

Autosomal dominant inheritance

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

Orphanet:2438       Find images (Google)       Find case reports       Monarch       KEGG:H00460        Gene Reviews       GTR:C1841679

263
(73.8%)

Radioulnar synostosis-microcephaly-scoliosis syndrome

Abnormality of the philtrum Epicanthus Microcephaly Radioulnar synostosis Type A1 brachydactyly

Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.

Orphanet:3268       Find images (Google)       Find case reports       Monarch       GTR:C1863881

264
(73.8%)

Johnson neuroectodermal syndrome

Everted lower lip vermilion Hand polydactyly Lower eyelid coloboma Microcephaly

Autosomal dominant inheritance

Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.

Orphanet:2316       Find images (Google)       Find case reports       Monarch       GTR:C0796002

265
(73.8%)

Acitretin/etretinate embryopathy

Aplasia/hypoplasia involving bones of the upper limbs Epicanthus Median cleft palate Micrognathia

A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.

Orphanet:40366       Find images (Google)       Find case reports       Monarch      

266
(73.8%)

2q23.1 microdeletion syndrome

Short palm Synophrys Tented upper lip vermilion

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

Orphanet:228402       Find images (Google)       Find case reports       Monarch      

267
(73.7%)

Orofaciodigital syndrome type 6

Brachydactyly Central Y-shaped metacarpal Cleft palate Highly arched eyebrow Micrognathia

Autosomal recessive inheritance X-linked recessive inheritance

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

Orphanet:2754       Find images (Google)       Find case reports       Monarch       GTR:C2745997

268
(73.7%)

PHAVER syndrome

Epicanthus Radioulnar synostosis Short thumb

Autosomal recessive inheritance

Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.

Orphanet:2876       Find images (Google)       Find case reports       Monarch       GTR:C1849928

269
(73.7%)

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Broad thumb Lip pit Mandibular prognathia Tapered finger Telecanthus

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.

Orphanet:1236       Find images (Google)       Find case reports      

270
(73.7%)

Anophthalmia plus syndrome

Bilateral cleft lip and palate Deviation of finger Eyelid coloboma Vertebral segmentation defect

Autosomal recessive inheritance

A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.

Orphanet:1104       Find images (Google)       Find case reports       Monarch       GTR:C1833339

271
(73.7%)

Acromelic frontonasal dysplasia

Median cleft lip Patellar hypoplasia Telecanthus

Autosomal dominant inheritance

A rare 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.

Orphanet:1827       Find images (Google)       Find case reports       Monarch       KEGG:H02210        GTR:C0796182

272
(73.6%)

MEND syndrome

Cleft palate Micrognathia Overlapping fingers Telecanthus

X-linked recessive inheritance

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

Orphanet:401973       Find images (Google)       Find case reports       Monarch       KEGG:H02248       

272
(73.6%)

Trisomy 1q

Cleft palate Downslanted palpebral fissures Microretrognathia Overlapping fingers

Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.

Orphanet:261344       Find images (Google)       Find case reports       Monarch      

274
(73.6%)

Short stature-wormian bones-dextrocardia syndrome

Abnormality of the philtrum Brachydactyly Downslanted palpebral fissures Micrognathia

A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).

Orphanet:2863       Find images (Google)       Find case reports       Monarch       GTR:C1861448

274
(73.6%)

Maternal phenylketonuria

Brachydactyly Epicanthus Long philtrum Micrognathia

A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

Orphanet:2209       Find images (Google)       Find case reports       Monarch       GTR:C0085547

274
(73.6%)

Carey-Fineman-Ziter syndrome

Brachydactyly Epicanthus Long philtrum Micrognathia

Autosomal recessive inheritance

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

Orphanet:1358       Find images (Google)       Find case reports       Monarch       KEGG:H01908        GTR:C1850746

274
(73.6%)

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Brachydactyly Epicanthus Microretrognathia Thin upper lip vermilion

Autosomal dominant inheritance

Orphanet:457193       Find images (Google)       Find case reports       Monarch      

274
(73.6%)

Trisomy 20p

Brachydactyly Epicanthus Micrognathia Smooth philtrum

Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.

Orphanet:261318       Find images (Google)       Find case reports       Monarch       GTR:C0265480 GTR:C2930888

279
(73.6%)

Rhizomelic syndrome, Urbach type

Abnormality of the tongue Cleft palate Micrognathia Rhizomelia Short distal phalanx of finger

Autosomal recessive inheritance

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.

Orphanet:3098       Find images (Google)       Find case reports       Monarch       GTR:C1849382

279
(73.6%)

Diastrophic dwarfism

Cleft palate Micrognathia Micromelia Short finger

Autosomal recessive inheritance

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Orphanet:628       Find images (Google)       Find case reports       Monarch       Gene Reviews       GTR:C0220726

281
(73.6%)

Brachymorphism-onychodysplasia-dysphalangism syndrome

Brachydactyly Epicanthus Long philtrum Short distal phalanx of toe

Autosomal dominant inheritance

Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.

Orphanet:1292       Find images (Google)       Find case reports       Monarch       GTR:C1862082

281
(73.6%)

Roifman syndrome

Brachydactyly Long palpebral fissure Short toe Thin upper lip vermilion

Autosomal recessive inheritance X-linked recessive inheritance

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

Orphanet:353298       Find images (Google)       Find case reports       Monarch       KEGG:H01575        GTR:C1846059

283
(73.6%)

Hall-Riggs syndrome

Brachydactyly Epicanthus Limb undergrowth Thick vermilion border

Autosomal recessive inheritance

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.

Orphanet:2107       Find images (Google)       Find case reports       Monarch       GTR:C1856198

284
(73.6%)

Radio-renal syndrome

Convex nasal ridge High, narrow palate Hypoplasia of the radius Micrognathia Short palm

Autosomal dominant inheritance

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.

Orphanet:3015       Find images (Google)       Find case reports       Monarch       GTR:C2931146

285
(73.5%)

Pelvis-shoulder dysplasia

Aplasia/hypoplasia of the femur Cleft palate Dislocated radial head Micrognathia Short palpebral fissure

Autosomal dominant inheritance

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.

Orphanet:2839       Find images (Google)       Find case reports       Monarch       GTR:C1868508

286
(73.5%)

Multiple pterygium-malignant hyperthermia syndrome

Abnormality of the mandible Arachnodactyly Downslanted palpebral fissures Hemiatrophy Long philtrum

Autosomal recessive inheritance

Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.

Orphanet:2215       Find images (Google)       Find case reports       Monarch       GTR:C1857576

287
(73.4%)

Camptodactyly syndrome, Guadalajara type 1

Epicanthus Mandibular prognathia Narrow mouth Short distal phalanx of finger

Autosomal recessive inheritance

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

Orphanet:1327       Find images (Google)       Find case reports       Monarch       GTR:C2931679 GTR:C1859359

288
(73.4%)

Fibrochondrogenesis

Brachydactyly Cleft palate Downslanted palpebral fissures Micromelia Short ribs

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Orphanet:2021       Find images (Google)       Find case reports       Monarch       GTR:C0265282

289
(73.4%)

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Abnormality of the mandible Glossoptosis Short 4th metacarpal Short distal phalanx of finger Submucous cleft hard palate

Autosomal dominant inheritance

This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).

Orphanet:3201       Find images (Google)       Find case reports       Monarch       GTR:C1860471 GTR:C2931232

290
(73.4%)

Ring chromosome 6 syndrome

Epicanthus Micrognathia Short distal phalanx of finger

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.

Orphanet:1448       Find images (Google)       Find case reports       Monarch       GTR:C0795814 GTR:C2931604

290
(73.4%)

Congenital ptosis

Micrognathia Short finger Telecanthus

Autosomal dominant inheritance

Congenital ptosis is characterized by superior eyelid drop present at birth.

Orphanet:91411       Find images (Google)       Find case reports       Monarch       GTR:C0266573

292
(73.4%)

Craniofaciofrontodigital syndrome

Brachydactyly Diaphyseal dysplasia Epicanthus Hypoplastic vertebral bodies Long philtrum

Autosomal dominant inheritance Sporadic

Craniofaciofrontodigital syndrome 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).

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293
(73.4%)

Cleft palate-large ears-small head syndrome

Cleft palate Micrognathia Short distal phalanx of finger

Autosomal dominant inheritance

Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.

Orphanet:2013       Find images (Google)       Find case reports       Monarch       GTR:C1867023

293
(73.4%)

Crane-Heise syndrome

Cleft palate Micrognathia Short distal phalanx of finger

Autosomal recessive inheritance

Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.

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295
(73.3%)

Growth delay-hydrocephaly-lung hypoplasia syndrome

Lower limb undergrowth Micrognathia Radial bowing Upslanted palpebral fissure

Autosomal recessive inheritance

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

Orphanet:3035       Find images (Google)       Find case reports       Monarch       GTR:C1856052

296
(73.2%)

Robin sequence-oligodactyly syndrome

Abnormality of the ulna Cleft palate Glossoptosis Hand oligodactyly Micrognathia

Autosomal dominant inheritance

Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.

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296
(73.2%)

Distal limb deficiencies-micrognathia syndrome

Abnormality of the ulna Aplasia/Hypoplasia of the thumb Cleft palate Microretrognathia Narrow mouth

Autosomal dominant inheritance Autosomal recessive inheritance

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

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298
(73.2%)

Incontinentia pigmenti

Abnormal hand morphology Absent hand Hemiatrophy Nasolacrimal duct obstruction Oral cleft

X-linked dominant inheritance

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Orphanet:464       Find images (Google)       Find case reports       Monarch       KEGG:H00645        Gene Reviews       GTR:C0021171 GTR:C0022283 GTR:C2930820

299
(73.2%)

Cardiofaciocutaneous syndrome

Abnormality of the ulna Deep palmar crease Epicanthus Hypoplasia of the zygomatic bone Long philtrum

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

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300
(73.2%)

Truncus arteriosus

Bilateral cleft lip Postaxial oligodactyly Retrognathia Rhizomelia

Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.

Orphanet:3384       Find images (Google)       Find case reports       Monarch       GTR:C0041207