Gene Summary

Name:
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Synonyms:
Sofa,  4432409B16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pfasem1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Electroretinography 3

Fundus file

8 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Pfas mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pfas by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Hypopigmentation of hair, Generalized hyperpigmentation, Short nose, Antev... ORPHA:1355
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Broad nasal tip, Micrognathia, Anophthalmia, Micro... OMIM:615524
17Q21.31 Microduplication Syndrome
Failure to thrive, Generalized hirsutism, Thick eyebrow, Malar flattening, Micrognathia, Microcep... ORPHA:217340
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Anophthalmia, Prominent nose, Microphthalmia, Vertebral fusion OMIM:221950
Rhiny
Anteverted nares, Short nose OMIM:180360
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, White eyelashes, Synophry... OMIM:193510
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Macrocephaly, Hypertelorism, Broad nasal tip, Thin eyebrow, Thick nasal alae, High anterior hairl... OMIM:618147
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Non-Distal Trisomy 10Q
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Depressed nasal bridge, Micrognathia, M... ORPHA:1695
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Meckel Syndrome, Type 8
Depressed nasal ridge, Microcephaly, Anophthalmia, Short nose, Microphthalmia OMIM:613885
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Macrocephaly, Thick eyebrow, Deeply set eye, Truncal obesity, Short nose, Synophrys, Mandibular p... ORPHA:2429
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Macrocephaly, Malar flattening, Retrognathia, Broad nasal tip, Short nose, Obesity, Hypertelorism... OMIM:613670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Cofs Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Abnormal nasal morphology, Prominent metopi... ORPHA:1466
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Warburg Micro Syndrome 1
Failure to thrive, Hypertrichosis, Deeply set eye, Microphthalmia, Micrognathia, Microcephaly, Os... OMIM:600118
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Narrow nasal bridge, Short nose, Lon... ORPHA:1514
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Microphthalmia OMIM:615771
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microcephaly, Micrognathia, ... ORPHA:1832
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Low posterior hairline ORPHA:1450
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes OMIM:200130
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microcephaly, Prominent nose, Microphthalmia OMIM:616171
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
14Q11.2 Microdeletion Syndrome
Deeply set eye, Depressed nasal bridge, Micrognathia, Short nose, Melanocytic nevus, Hyperteloris... ORPHA:261120
Pterygium Colli, Isolated
Short nose, Low posterior hairline OMIM:177990
Mmep Syndrome
Mandibular prognathia, Microcephaly, Microphthalmia ORPHA:3434
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism OMIM:614069
Microphthalmia With Limb Anomalies
Flared nostrils, Retrognathia, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Anophtha... OMIM:206920
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Macrocephaly, Abnormally large globe, Microcephaly, Wide nasal bridge, Short nose, ... OMIM:611936
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Faciothoracogenital Syndrome
Anteverted nares, Micrognathia, Microphthalmia, Small nail OMIM:227320
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Bulbous nose, Low anterior hairline, Thick eyebrow, Broad nasal tip, Anophthalmia, Long eyelashes... ORPHA:411986
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microcephaly, Microphthalmia ORPHA:2528
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Edinburgh Malformation Syndrome
Aplasia/Hypoplasia affecting the eye, Joint stiffness, Hirsutism, Generalized hirsutism, Failure ... ORPHA:1895
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Macrocephaly, Patchy alopecia, Microcephaly, Camptodactyly of finger, Hypoplasia of the maxilla, ... ORPHA:85279
Oculocerebrocutaneous Syndrome
Alopecia, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Short columella OMIM:155050
Mental Retardation, X-Linked 91
Obesity, Short nose, Cubitus valgus, Low posterior hairline OMIM:300577
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Adams-Oliver Syndrome 2
Bulbous nose, Macrocephaly, Low anterior hairline, Depressed nasal bridge, Microcephaly, Microgna... OMIM:614219
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Macrocephaly, Depressed nasa... OMIM:122860
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge OMIM:618302
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnor... ORPHA:897
Pierpont Syndrome
Failure to thrive, Deeply set eye, Hypertelorism, Decreased body weight, Malar flattening, Broad ... OMIM:602342
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Convex nasal ridge, Sparse hair, Small for gestational age, Micrognathia, Camptod... OMIM:610756
Frontonasal Dysplasia 1
Microphthalmia, Joint contracture of the hand, Hypertelorism, Broad nasal tip, Bifid nose, Campto... OMIM:136760
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Inguinal hernia, Flexion contracture, Microcephaly, Narrow nasal bridge, Short... OMIM:618379
Chung-Jansen Syndrome
Thick eyebrow, Micrognathia, Short nose, Synophrys, Joint hypermobility, Anteverted nares, Cafe-a... OMIM:617991
Pierpont Syndrome
Deeply set eye, Hypertelorism, Malar flattening, Small for gestational age, Joint laxity, Primary... ORPHA:487825
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia, Microcephaly, Neutropenia, Anemia, Thrombocytopenia,... OMIM:614082
Seckel Syndrome 2
Micrognathia, Microcephaly, Prominent nose, Microphthalmia, Few cafe-au-lait spots OMIM:606744
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Microcephaly, Camptodactyly, Wide nose, Cubitus valgus, Knee flexion contracture, M... OMIM:619694
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Thick eyebrow, White hair, Hypopigmentation of hair, Short nose, Whit... ORPHA:894
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Bulbous nose, Deeply set eye, Lipoatrophy, Sparse hair, Hypopigmentation of th... ORPHA:261304
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Hypotelorism, Microcephaly, Pyriform aperture stenosis, Anophtha... OMIM:147250
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... ORPHA:1529
Nanophthalmos 2
Microphthalmia OMIM:609549
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Hypertelorism, Wide nose OMIM:125700
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Nail dysplasia, Hypoplastic toenails, Macrocephaly, Malar flattening, Depressed nasal bridge, Hyp... ORPHA:2835
Non-Distal Trisomy 13Q
Aplasia/Hypoplasia affecting the eye, Hypoplastic toenails, Hypotelorism, Thick eyebrow, Microgna... ORPHA:1702
Trisomy 1Q
Hypoplastic toenails, Macrocephaly, Microretrognathia, Congenital diaphragmatic hernia, Hypotelor... ORPHA:261344
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Deeply set eye, Microphthalmia, Joint contracture of the hand, Flex... OMIM:214150
Hypotrichosis 8
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Adenylosuccinate Lyase Deficiency
Anteverted nares, Microcephaly, Prominent metopic ridge, Short nose ORPHA:46
Fanconi Anemia, Complementation Group S
Dental malocclusion, Failure to thrive, Low anterior hairline, Sparse hair, Microcephaly, Long ey... OMIM:617883
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Progressive microcephaly, Hypertelorism, Highly arched eyebrow ORPHA:438178
Nanophthalmos 4
Microphthalmia OMIM:615972
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Broad nasal tip, Micrognathia, Camptodactyly, Ventral hernia, Short nose, ... OMIM:618529
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge OMIM:616430
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Micrognathia, Genu valgum, Short nose, Proptosis, Patellar dislocation,... OMIM:614078
Achondrogenesis
Macrocephaly, Micrognathia, Abnormality of bone mineral density, Short nose, Anteverted nares, Ab... ORPHA:932
2Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Camptodactyly of finger, Microphthalmia, Hypertelorism ORPHA:1617
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Micrognathia, Ulnar deviation of the wrist, Short nose, Long eyelashes, P... OMIM:618577
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Flexion contracture, Alopecia, Brittle hair, Delayed cranial suture closure, Loss of... OMIM:608612
Temtamy Syndrome
Macrocephaly, Convex nasal ridge, Micrognathia, Genu varum, Microphthalmia, Joint hyperflexibility ORPHA:1777
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Congenital giant melanocytic nevus, Short nose, Anteverted nares, Narrow nasal r... OMIM:137550
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Simpson-Golabi-Behmel Syndrome, Type 2
Macrocephaly, Inguinal hernia, Recurrent upper respiratory tract infections, Congenital hip dislo... OMIM:300209
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia, Hypertelorism, Abnormal hair morphology OMIM:248450
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Macrocephaly, Hypertelorism, Flexion contracture, Retrognathia, Broad nasal ti... ORPHA:391372
Cockayne Syndrome Type 2
Hypermelanotic macule, Hypoplasia of the primary teeth, Flexion contracture, Anophthalmia, Enamel... ORPHA:90322
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Short nose, Micrognathia, Distichiasis ORPHA:2598
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Inguinal hernia, Joint laxity, Bilateral microphthalmos, Hip dislocation, Cigare... OMIM:608763
Peho-Like Syndrome
Progressive microcephaly, Short nose, Retrognathia OMIM:617507
Braddock-Carey Syndrome 2
Retrognathia, Microcephaly, Bulbous nose, Microphthalmia OMIM:619981
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia, Macrocephaly, Microphthalmia OMIM:617306
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Progressive microcephaly OMIM:618737
Anencephaly 2
Anophthalmia, Bifid nose OMIM:619452
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Omphalocele, Microphthalmia, Hypertelorism, Decreased skull ossification, Wide nasa... ORPHA:93267
Al-Raqad Syndrome
Deeply set eye, Hypopigmentation of the skin, Microcephaly, Short nose, Joint laxity OMIM:616459
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Craniosynostosis, Sparse eyebrow, Abnormality of the nares, Camptodactyly ... ORPHA:178303
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Premature Aging Syndrome, Penttinen Type
Sparse hair, Osteopenia, Delayed cranial suture closure, Micrognathia, Narrow nose, Wormian bones... OMIM:601812
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Hypoplasia o... ORPHA:1248
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Malar flattening, Craniosynostosis, Depressed nasal bridge, Micrognathia, Radioulnar synostosis, ... ORPHA:171839
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Hypertelorism, Increased bone mineral density... ORPHA:163649
Nablus Mask-Like Facial Syndrome
Low anterior hairline, Joint contracture of the hand, Sparse hair, Craniosynostosis, Retrognathia... OMIM:608156
20P12.3 Microdeletion Syndrome
Macrocephaly, Malar flattening, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:261295
Marshall-Smith Syndrome
Failure to thrive, Generalized hirsutism, Reduced bone mineral density, Craniosynostosis, Retrogn... ORPHA:561
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Sparse eyebrow, Depressed nasal tip, Microcephaly, Recu... ORPHA:2399
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Perlman Syndrome
Macrocephaly, Deeply set eye, Inguinal hernia, Retrognathia, Micrognathia, Femoral hernia, Short ... ORPHA:2849
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Bulbous nose, Agenesis of central incisor, Prominence of the zygomatic bone, T... ORPHA:364577
Donnai-Barrow Syndrome
Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic hernia, Depressed nasal bridge, Sh... ORPHA:2143
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Osteopenia, Micrognathia, Bilateral elbow dislocations, Wrist swelling, Ca... OMIM:166300
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Thick eyebrow, Broad nasal tip, Depressed nasal bridge, Delayed eruption ... OMIM:619736
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Small for gestational age, Microphthalmia OMIM:278780
Trichothiodystrophy 1, Photosensitive
Pili torti, Sparse hair, Flexion contracture, Small for gestational age, Retrognathia, Brittle ha... OMIM:601675
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Macrocephaly, Malar flattening, Depressed nasal ... ORPHA:2180
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Microcephaly, Short nose, Microphthalmia, Hypertelorism OMIM:614105
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Malar flattening, Depressed nasal bridge, Short nose, Anteverted nares, M... OMIM:614613
Trisomy 13
Deeply set eye, Hypotelorism, Malar flattening, Anophthalmia, Abnormal eyelash morphology, Hernia... ORPHA:3378
Smith-Kingsmore Syndrome
Wide anterior fontanel, Macrocephaly, Depressed nasal bridge, Large for gestational age, Short no... OMIM:616638
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Depressed nasal bridge, Lipomas of eyelids, Hypoplasia of the maxilla, Widow's pe... OMIM:167730
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Microcephaly, Camptodactyly of finger, Short nose, Micrognathia ORPHA:1495
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic toenails, Hypoplastic fifth fingernail, Hypoplastic thumbnail, Micrognathia, Microcep... OMIM:619356
Sandestig-Stefanova Syndrome
Convex nasal ridge, Small for gestational age, Retrognathia, Prominent metopic ridge, Sparse medi... OMIM:618804
Lowry-Maclean Syndrome
Widely patent coronal suture, Convex nasal ridge, Craniosynostosis, Retrognathia, Osteopenia, Mic... ORPHA:2409
Fetal Alcohol Syndrome
Joint stiffness, Generalized hirsutism, Micrognathia, Microcephaly, Short nose, Microphthalmia, A... ORPHA:1915
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Hypertelorism, Choanal atresia, Anophthalmia ORPHA:1104
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly, Small for gestational age OMIM:245570
Joubert Syndrome 37
Deeply set eye, Microphthalmia, Sparse hair, Prominent metopic ridge, Wide nose, Joint hypermobil... OMIM:619185
Cerebrooculonasal Syndrome
Macrocephaly, Malar flattening, Craniosynostosis, Sparse eyebrow, Sparse eyelashes, Optic nerve h... OMIM:605627
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Camptodactyly of finger, Short nose, Microphthalmia, Limitation of joint mobility ORPHA:2547
Achondrogenesis Type 1A
Recurrent fractures, Macrocephaly, Micrognathia, Femoral hernia, Short nose, Umbilical hernia, An... ORPHA:93299
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Thick eyebrow, Supernumerary nipple, Malar flattening, Micr... ORPHA:1699
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Micrognathia, Poorly ossified vertebrae, Microphth... OMIM:619135
Achondrogenesis Type 1B
Macrocephaly, Micrognathia, Femoral hernia, Short nose, Umbilical hernia, Anteverted nares, Abnor... ORPHA:93298
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Wide anterior fontanel, Abnormality of hair texture, Inguinal hernia, Malar fl... OMIM:219200
Vitamin K Antagonist Embryofetopathy
Aplasia/Hypoplasia affecting the eye, Depressed nasal bridge, Short nose, Proptosis, Choanal atre... ORPHA:1914
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Low anterior hairline, Hypotelorism, Sparse hair, Decreased body weight, Small for gestational ag... ORPHA:391408
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Camptodactyly of finger, Osteoporosis, Long eyelashes, Microphthalmia, Malar promin... ORPHA:48431
Congenital Varicella Syndrome
Atypical scarring of skin, Microcephaly, Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Macrocephaly, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:300676
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Carious teeth, Abnorm... ORPHA:2701
Hydrolethalus
Deeply set eye, Abnormality of the sense of smell, Micrognathia, Retrognathia, Anophthalmia, Micr... ORPHA:2189
Baraitser-Winter Syndrome 1
Failure to thrive, Retrognathia, Microcephaly, Wide nasal bridge, Short nose, Microphthalmia, Ant... OMIM:243310
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Melanocytic nevus, Depressed nasal bridge, Camptodactyly of finger, Microcep... ORPHA:1327
Cerebrooculonasal Syndrome
Sparse eyebrow, Sparse eyelashes, Abnormality of the nares, Anophthalmia, Hypertelorism ORPHA:66625
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Keipert Syndrome
Macrocephaly, Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Aplastic... ORPHA:2662
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Proptosis, Reduced bone mineral density ORPHA:2370
17P13.3 Microduplication Syndrome
Inguinal hernia, Congenital hip dislocation, Wide nose, Short nose, Hypertelorism ORPHA:217385
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microcephaly, Microphthalmia OMIM:274270
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Osteoporosis of vertebrae, Hypoplasia of the maxilla OMIM:156510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Abnormal hair whorl, Small for gestational age, Wide nose, Short nose, Hypopla... OMIM:614261
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Deeply set eye, Decreased body weight, Micrognathia, Camptodactyly of fin... OMIM:610758
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Macrocephaly, Thick eyebrow, Depressed nasal bridge, Broad columella, Short no... OMIM:617865
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Osteopenia, Sparse facial hair, Genu valgum, Hypoplasia of the maxilla, Cub... OMIM:608154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hernia, Joint laxity, Microphthalmia, Hypertelorism, Progressive macrocep... OMIM:602501
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia, Delayed eruption of teeth, Short nose, Anteverted nares, H... ORPHA:884
Potocki-Shaffer Syndrome
Short nose, Sparse lateral eyebrow, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Microphthalmia, Syndromic 8
Mandibular prognathia, Microcephaly, Microphthalmia OMIM:601349
Split-Hand/Foot Malformation 3
Nail dysplasia, Microretrognathia, Camptodactyly, Hypoplasia of the maxilla, Ridged nail, Nail dy... OMIM:246560
Adams-Oliver Syndrome 4
Hypoplastic toenails, Toenail dysplasia, Umbilical hernia, Microphthalmia OMIM:615297
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia OMIM:251270
Clark-Baraitser Syndrome
Low hanging columella, Depressed nasal bridge, Microcephaly, Short nose, Anteverted nares, Obesit... OMIM:617752
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Deeply set eye, Sparse hair, Microcephaly, Short nose, Mandibular prognathia, Hypertel... OMIM:618087
Acromicric Dysplasia
Abnormal eyebrow morphology, Bulbous nose, Short nose, Long eyelashes, Anteverted nares ORPHA:969
Ring Chromosome 10 Syndrome
Cachexia, Micrognathia, Microphthalmia, Hypertelorism, Wide nasal bridge ORPHA:1438
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Joint stiffness, Hypopigmented skin patches, Abnormality of the nares, Aplastic/hypoplastic toena... ORPHA:1295
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Holoprosencephaly
Macrocephaly, Depressed nasal ridge, Depressed nasal tip, Omphalocele, Microphthalmia, Failure to... ORPHA:2162
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Low anterior hairline, Deeply set eye, Depressed nasal bridge, Optic nerve hypoplas... OMIM:618828
Congenital Disorder Of Glycosylation, Type Iu
Hypotelorism, Micrognathia, Short nose, Congenital contracture, Secondary microcephaly OMIM:615042
Acrodysostosis
Melanocytic nevus, Depressed nasal ridge, Depressed nasal bridge, Wide nasal bridge, Delayed erup... ORPHA:950
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Microphthalmia, Hypertelorism, Underdeveloped nasal alae, Wide ... OMIM:613456
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Bulbous nose, Hypoplasia of the maxilla, Frontal balding ORPHA:93945
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hirsutism, Flexion contracture, Retrognathia, Osteopenia, Buphthalmos, Microce... OMIM:618005
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spinocerebellar Ataxia-Dysmorphism Syndrome
Macrocephaly, Genu recurvatum, Reduced bone mineral density, Coarse hair, Spina bifida occulta, S... ORPHA:1185
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Cockayne Syndrome Type 1
Failure to thrive, Scarring, Deeply set eye, Hypermelanotic macule, Hypoplasia of the primary tee... ORPHA:90321
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla ORPHA:93950
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick eyebrow, Microretrognathia, Highly arched eyebrow, Hypoplasia of the maxilla, Absent eyelas... ORPHA:228396
Acrocephalopolydactyly
Short nose, Hypertelorism, Genu recurvatum, Depressed nasal ridge ORPHA:221054
Intellectual Developmental Disorder, X-Linked 21
Short nose, Synophrys, Joint hypermobility, Mandibular prognathia, Hypertelorism OMIM:300143
Crouzon Syndrome
Convex nasal ridge, Multiple suture craniosynostosis, Choanal atresia, Hypoplasia of the maxilla,... ORPHA:207
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Short nose, Short nasal septum, Anosmia, Epiphyseal stippling OMIM:302950
Frontonasal Dysplasia 2
Sparse hair, Depressed nasal ridge, Craniosynostosis, Sparse eyebrow, Depressed nasal bridge, Dep... OMIM:613451
Xk Aprosencephaly Syndrome
Abnormality of the nares, Microcephaly, Hypotelorism, Microphthalmia ORPHA:3469
Lujan-Fryns Syndrome
Macrocephaly, Micrognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Prominent nasal b... ORPHA:776
Otodental Syndrome
Taurodontia, Abnormal molar morphology, Delayed eruption of teeth, Pulp calcification, Carious te... ORPHA:2791
Chromosome 6Q11-Q14 Deletion Syndrome
Hypotelorism, Inguinal hernia, Broad nasal tip, Short nose, Umbilical hernia, Hypertelorism OMIM:613544
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Sparse eyelashes, Long n... OMIM:257850
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Macrocephaly, Depressed nasal ridge, Short nose, Microphthalmia, Decreased skull ossification OMIM:300863
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Abnormality of the sense of smell, Choana... ORPHA:1135
Warburg Micro Syndrome 3
Hypertrichosis, Low anterior hairline, Flexion contracture, Ankle clonus, Microcephaly, Micrognat... OMIM:614222
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Failure to thrive, Hypertelorism, Sparse hair, Inguinal hernia, Generalized joint lax... ORPHA:357074
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Coronal craniosynostosis, Depressed nasal bridge, Bifid nose, Fine hair, Microphthalmia... ORPHA:228390
Pallister-Hall-Like Syndrome
Macrocephaly, Depressed nasal bridge, Micrognathia, Short nose, Hip dislocation OMIM:241800
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Malar flattening, Craniosynostosis, Micrognathia, Short nose, Hypertelorism ORPHA:2145
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Failure to thrive, Low anterior hairline, Hypotelorism, Osteopenia, Microgna... ORPHA:329178
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Macrocephaly, Microretrognathia, Wide nasal bridge OMIM:613603
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Short nose, Mandibular prognathia, Deeply set eye, Joint dislocati... OMIM:193700
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose, Hypertelorism OMIM:613443
Hall-Riggs Syndrome
Joint stiffness, Failure to thrive, Hypertelorism, Coarse hair, Microcephaly, Wide nasal bridge, ... ORPHA:2107
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Low anterior hairline, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Fr... ORPHA:369891
Craniolenticulosutural Dysplasia
Sparse hair, Brittle hair, Coarse hair, Delayed eruption of teeth, Decreased skull ossification, ... ORPHA:50814
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Pontocerebellar Hypoplasia, Type 10
Microcephaly, Short nose, Long eyelashes, Proptosis, Progressive microcephaly, Highly arched eyeb... OMIM:615803
Oculotrichoanal Syndrome
Abnormal hair pattern, Anophthalmia, Bifid nasal tip, Microphthalmia, Hypertelorism ORPHA:2717
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Deeply set eye, Depressed nasal bridge, Micrognathia, Microcephaly, Short nose... OMIM:613457
Craniotelencephalic Dysplasia
Microcephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis ORPHA:1528
Bainbridge-Ropers Syndrome
Sparse hair, Broad nasal tip, Depressed nasal bridge, Short nose, Long eyelashes, Proptosis, Deep... OMIM:615485
Nance-Horan Syndrome
Supernumerary tooth, Prominent nose, Microphthalmia, Mandibular prognathia, Prominent nasal bridge ORPHA:627
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Microcephaly, Anophthalmia, Microphthalmia ORPHA:139471
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Macrocephaly, Hypoplasia of the maxilla ORPHA:397973
Multicentric Osteolysis, Nodulosis, And Arthropathy
Bulbous nose, Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin bony cortex, Hypopla... OMIM:259600
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, Delaye... OMIM:268400
Baraitser-Winter Syndrome 2
Retrognathia, Secondary microcephaly, Highly arched eyebrow, Microphthalmia OMIM:614583
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Alopecia, Micrognathia, Acroosteolysis of distal phalanges (feet), Generalize... ORPHA:90154
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Autosomal Dominant Omodysplasia
Malar flattening, Depressed nasal bridge, Micrognathia, Short nose, Hypertelorism, Patellar dislo... ORPHA:93328
Dysostosis, Stanescu Type
Convex nasal ridge, Increased bone mineral density, Massively thickened long bone cortices, Abnor... ORPHA:1798
Bartsocas-Papas Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Microcephaly, Sparse or ab... ORPHA:1234
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Micrognathia, Microcephaly, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair pattern... ORPHA:2083
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hypertrichosis, Depressed nasal bridge, Abnormality of skin pigmentation, Micr... OMIM:612379
Frontofacionasal Dysplasia
Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas... ORPHA:1791
Monosomy 18P
Alopecia, Micrognathia, Microcephaly, Carious teeth, Microphthalmia, Low posterior hairline, Wide... ORPHA:1598
Distal Trisomy 18Q
Micrognathia, Camptodactyly of finger, Abnormal hair pattern, Carious teeth, Short nose, Choanal ... ORPHA:1716
Hartsfield Syndrome
Depressed nasal bridge, Hypertelorism, Microphthalmia, Craniosynostosis ORPHA:2117
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Malar flattening, Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation OMIM:109120
Tetrasomy 5P
Failure to thrive, Wide anterior fontanel, Macrocephaly, Micrognathia, Wide nasal bridge, Depigme... ORPHA:3309
Stickler Syndrome Type 1
Osteoarthritis, Short nose, Hypoplasia of the maxilla, Joint hyperflexibility ORPHA:90653
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microcephaly, Microphthalmia, Anemia, Thrombocytopenia, Fail... ORPHA:858
Cohen Syndrome
Convex nasal ridge, Macrodontia of permanent maxillary central incisor, Thick eyebrow, Micrognath... OMIM:216550
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Depressed nasal bridge, Short nose, Postnatal macrocephaly, Obesity, B... OMIM:605309
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Nail dysplasia, Failure to thrive, Sparse hair, Inguinal her... OMIM:613026
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Macrocephaly, Craniosynostosis, Osteopenia, Depressed nasal bridge, Short nose OMIM:614732
Spinocerebellar Ataxia With Dysmorphism
Anteverted nares, Short nose, Coarse hair OMIM:271270
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Small for gestational age, Osteopenia, Micrognathia, Microcephaly, Wormian b... OMIM:616897
X-Linked Dominant Chondrodysplasia Punctata
Anterior rib punctate calcifications, Flexion contracture, Abnormally ossified vertebrae, Sparse ... ORPHA:35173
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Deeply set eye, Micrognathia, Camptodactyly, Short nose OMIM:613604
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Malar flattening, Camptodactyly, Short nose, Hip dislocation OMIM:613458
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Short nose, Hypertelorism, Highly arched eyebrow OMIM:300887
Hypomandibular Faciocranial Dysostosis
Malar flattening, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Choanal sten... OMIM:241310
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Depressed nasal bridge, Micrognathia, Sagittal craniosynostosis, Short ... OMIM:145420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose, Microcephaly, Hypertelorism OMIM:616910
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Flexion contracture, Micrognathia, Microcephaly, Osteoporosis, Wide nose, Shor... OMIM:615851
Pycnodysostosis
Carious teeth, Hypoplasia of the maxilla, Increased bone mineral density, Micrognathia, Joint lax... ORPHA:763
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Short nose, Micrognathia OMIM:614744
Holoprosencephaly 9
Dental malocclusion, Hypoplasia of the premaxilla, Malar flattening, Depressed nasal bridge, Micr... OMIM:610829
Craniometaphyseal Dysplasia, Autosomal Recessive
Macrocephaly, Hypertelorism, Bony paranasal bossing, Patchy sclerosis of finger phalanx, Nasal co... OMIM:218400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Microcephaly, Short nose, Micrognathia, Slender nose OMIM:615419
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Macrocephaly, Malar flattening, Sparse eyebrow, Sparse eyelashes, Microcephaly... OMIM:618874
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Depressed nasal bridge, Short nose, Proptosis, Anteverted nares, Coarse metaphysea... OMIM:618961
Craniosynostosis 4
Pansynostosis, Macrocephaly, Malar flattening, Coronal craniosynostosis, Depressed nasal bridge, ... OMIM:600775
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Malar flattening, Craniosynostosis, Alopecia, Wormian bones, Short nose, ... OMIM:601853
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Oculodentodigital Dysplasia
Thin anteverted nares, Taurodontia, Sparse hair, Low hanging columella, Microphthalmia, Fragile n... OMIM:164200
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Short nose, Deeply set eye ORPHA:833
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Micrognathia, Synostosis of carpal bones, Microphthalmia, Anteverted nares, Obesity ORPHA:3191
Donnai-Barrow Syndrome
Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic hernia, Malar flattening, Broad na... OMIM:222448
Heart And Brain Malformation Syndrome
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent metopic ridge,... OMIM:616920
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Low anterior hairline, Flexion contracture, Short nose, Hypoplasia of the maxilla, Hypertelorism,... OMIM:218000
Fetal Trimethadione Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, Short nose, Synophrys ORPHA:1913
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Coffin-Siris Syndrome 9
Sparse scalp hair, Hypertrichosis, Hypoplastic fifth fingernail, Low hanging columella, Long nose... OMIM:615866
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Hypotelorism, Microphthalmia, Craniosynostosis OMIM:218670
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Microphthalmia, Micrognathia, Popliteal pterygium, Axillary pterygium, An... OMIM:619339
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Nail dysplasia, Bulbous nose, Deeply set eye, Hypotelorism, Congenital dia... OMIM:618454
Dermotrichic Syndrome
Depressed nasal bridge, Short nose, Hyperconvex toenail, Nail dystrophy ORPHA:99688
5Q14.3 Microdeletion Syndrome
Deeply set eye, Thick eyebrow, Optic nerve hypoplasia, Short nose, Anteverted nares ORPHA:228384
Antley-Bixler Syndrome
Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Delayed cranial suture c... ORPHA:83
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Microcephaly, Micrognathia, Short nose, Long eyelashes, Natal tooth, Prog... OMIM:617802
Disorder Of Sex Development-Intellectual Disability Syndrome
Deeply set eye, Reduced bone mineral density, Abnormal hair pattern, Spina bifida occulta, Genu v... ORPHA:2983
Spondylospinal Thoracic Dysostosis
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita OMIM:601809
Osteoglosphonic Dysplasia
Abnormal bone ossification, Inguinal hernia, Craniosynostosis, Micrognathia, Choanal atresia, Mul... ORPHA:2645
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Joint dislocation, Microretrognathia, Malar flattening, De... OMIM:251450
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypertrichosis, Hypoplasia of the maxilla OMIM:601216
Prolidase Deficiency
Failure to thrive, Facial hirsutism, Depressed nasal bridge, Micrognathia, Short nose, Proptosis,... OMIM:170100
Cebalid Syndrome
Thick eyebrow, Congenital diaphragmatic hernia, Depressed nasal ridge, Depressed nasal bridge, Sh... OMIM:618774
Poikiloderma With Neutropenia
Joint stiffness, Reticular hyperpigmentation, Sparse eyebrow, Retrognathia, Depressed nasal bridg... OMIM:604173
Cohen Syndrome
Abnormality of retinal pigmentation, Thick eyebrow, Low anterior hairline, Microphthalmia, Microg... ORPHA:193
Proboscis Lateralis
Abnormal eyebrow morphology, Macrocephaly, Hypertelorism, Abnormal facial skeleton morphology, Op... ORPHA:141099
Short Syndrome
Deeply set eye, Sparse hair, Inguinal hernia, Malar flattening, Alopecia, Wide nasal bridge, Lipo... ORPHA:3163
Autosomal Recessive Omodysplasia
Craniosynostosis, Depressed nasal bridge, Micrognathia, Short nose, Anteverted nares, Hernia, Pte... ORPHA:93329
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of... OMIM:616367
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Retrogna... ORPHA:2556
Microcephaly-Micromelia Syndrome
Convex nasal ridge, Craniosynostosis, Micrognathia, Microcephaly, Wide nose, Microphthalmia, Hume... OMIM:251230
Micro Syndrome
Joint stiffness, Generalized hirsutism, Abnormality of retinal pigmentation, Micrognathia, Microc... ORPHA:2510
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of hair OMIM:614072
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Hyposmia, Failure of eruption of permanent teeth, Anophthalmia, Microphthalmia, ... ORPHA:2250
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Focal Dermal Hypoplasia
Hiatus hernia, Sparse hair, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Delayed ... OMIM:305600
Oculogastrointestinal Neurodevelopmental Syndrome
Hirsutism, Low hanging columella, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Shallow orbits, Short nose, Ch... OMIM:101600
Fibular Hemimelia
Joint stiffness, Decreased hip abduction, Abnormal bone ossification, Craniosynostosis, Limited k... ORPHA:93323
Aarskog-Scott Syndrome
Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Delayed eru... ORPHA:915
Muenke Syndrome
Carpal synostosis, Macrocephaly, Hypermelanotic macule, Malar flattening, Coronal craniosynostosi... ORPHA:53271
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Deeply set eye, Hypotelorism, Sparse hair, Craniosynostosis, Small for gestational ... OMIM:614114
Intellectual Developmental Disorder, X-Linked 30
Deeply set eye, Microcephaly, Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Broad nasal tip, Depressed nasal bridge, Microcephaly, Microphthalmia, Anteverted nares, Mandibul... OMIM:152950
Oculodentodigital Dysplasia
Sparse hair, Carious teeth, Short nose, Umbilical hernia, Mandibular prognathia, Abnormal cortica... ORPHA:2710
Smith-Magenis Syndrome
Joint stiffness, Taurodontia, Deeply set eye, Depressed nasal bridge, Micrognathia, Microcephaly,... ORPHA:819
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Low hanging columella, Small for gestational age, Micrognathia, Prominent metopic... OMIM:619148
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, Short nose,... OMIM:242860
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Patchy alopecia, Hyperconvex nail, Sparse body hair, Sparse eyelashes, Anon... OMIM:106260
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Thick eyebrow, Micrognathia, Depressed nasal bridge, Microcephaly, Distal arth... OMIM:619833
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose, Microretrognathia ORPHA:1389
Leukodystrophy, Hypomyelinating, 10
Failure to thrive, Bulbous nose, Malar flattening, Microcephaly, Short nose, Anteverted nares, Pr... OMIM:616420
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Microphthalmia ORPHA:324416
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Osteoporosis, Aplasia/Hypoplasia of the lens, Iris hypopigmentation,... ORPHA:85194
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Decreased body weight, Abnormally large globe, Broad nasal tip, Micrognathia, Optic nerve hypopla... OMIM:300749
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation... ORPHA:2412
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Hypotelorism, Malar flattening, Depressed nasal bridge, Micrognathia, Short ... ORPHA:439822
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Depressed nasal bridge, Microcephaly, Short nose, Hip dislocation, Hypertelorism OMIM:608776
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Short nose, Joint laxity, Synophr... ORPHA:401935
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Gms Syndrome
Depressed nasal bridge, Short nose, Microcephaly, Rieger anomaly OMIM:138770
Matthew-Wood Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Abnormal spleen morphology, Anophthalmia, Mic... ORPHA:2470
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Microphthalmia OMIM:611040
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Macrocephaly, Deeply set eye, Supernumerary nipple, Inguinal hernia, Retrognathia, Depressed nasa... ORPHA:1812
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Depressed nasal ridge, Abnormal ossification involving the femora... ORPHA:79345
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Micrognathia, Short nose, Thick nasal alae, Hypertelorism ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Bulbous nose, Hirsutism, Thick eyebrow, Low anterior hairline, Retrognathia, Depressed nasal brid... OMIM:617061
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed eruption of teeth, Short... ORPHA:166272
Marshall Syndrome
Sparse hair, Malar flattening, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Osteoart... ORPHA:560
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
3Q29 Microduplication Syndrome
Macrocephaly, Biparietal narrowing, Craniosynostosis, Camptodactyly of toe, Microcephaly, Microph... ORPHA:251038
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Wide nose, Genu valgum, Short nose, Mandibular prognathia ORPHA:2831
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Malar flattening, Craniosynostosis, Osteopenia, Depressed nasal bridge, Microcephaly, Short nose,... OMIM:616723
Fetal Hydantoin Syndrome
Depressed nasal ridge, Coarse hair, Microcephaly, Short nose, Hernia, Hypertelorism, Hypoplastic ... ORPHA:1912
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Hypertelorism, Joint contracture of the hand, Congenital diaphragmatic hernia,... ORPHA:363528
Developmental And Epileptic Encephalopathy 75
Short nose, Proptosis, Anteverted nares, Hypertelorism, Secondary microcephaly, Wide nasal bridge OMIM:618437
Ohdo Syndrome
Sparse eyebrow, Depressed nasal bridge, Micrognathia, Short nose, Joint laxity, Anteverted nares,... OMIM:249620
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Hypotelorism, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, Carious ... OMIM:616395
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Otopalatodigital Syndrome, Type I
Nail dysplasia, Dislocated radial head, Accessory carpal bones, Hypertelorism, Malar flattening, ... OMIM:311300
Mandibulofacial Dysostosis-Microcephaly Syndrome
Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Secondary microcephaly ORPHA:79113
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, Microretrognathia, Abnormality of the ankles, Abnormality of the wrist, Hypoplasia ... ORPHA:1307
Cardiofaciocutaneous Syndrome 1
Bulbous nose, Macrocephaly, Sparse hair, Osteopenia, Depressed nasal bridge, Short nose, Proptosi... OMIM:115150
Martsolf Syndrome 1
Low anterior hairline, Tracheomalacia, Finger joint hypermobility, Broad nasal tip, Depressed nas... OMIM:212720
Cardiofaciocutaneous Syndrome
Macrocephaly, Sparse hair, Depressed nasal bridge, Sparse or absent eyelashes, Genu valgum, Short... ORPHA:1340
Walker-Warburg Syndrome
Microcephaly, Macrocephaly, Anophthalmia, Microphthalmia ORPHA:899
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Delayed ossification of carpal bones, Malar flattening, Hyperconvex nail, Abnormally large globe,... OMIM:239300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Leukonychia, Cellulitis, Melanonychia, Microcephaly, Anophth... ORPHA:2526
Hallermann-Streiff Syndrome
Recurrent fractures, Abnormality of hair texture, Convex nasal ridge, Supernumerary tooth, Malar ... ORPHA:2108
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Momo Syndrome
Dental malocclusion, Abnormal bone ossification, Taurodontia, Macrocephaly, Hyperconvex nail, Del... ORPHA:2563
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Prominence of the premaxilla, Microcephaly, Prominent nose, Delayed closu... OMIM:614886
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Microphthalmia OMIM:617914
Joubert Syndrome 14
Deeply set eye, Microphthalmia, Malar flattening, Prominent nasal bridge, Hypertelorism, Highly a... OMIM:614424
Malan Syndrome
Macrocephaly, Retrognathia, Advanced eruption of teeth, Short nose, Hyperplasia of the premaxilla... OMIM:614753
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Abnormality of the nose, ... ORPHA:999
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Nail dysplasia, Failure to thrive, Flexion contracture, Finger joint hypermobility, Inguinal hern... ORPHA:544503
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Macrocephaly, Anophthalmia, Long eyelashes, Microphthalmia, Recurrent patellar dislocation OMIM:615877
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrocephaly, Thick eyebrow, Flexion contracture, Patchy alopecia, Micrognathia, Recurrent upper ... OMIM:300534
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigmentation of hair, Abnormality of... ORPHA:3440
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Reduced bone mineral density, Microcephaly, Abnormal fingernail morphology, ... ORPHA:3079
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Deeply set eye, Microretrognathia, Hypotelorism, Long nose, Camptodactyly of finger... ORPHA:261211
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macrocephaly, Flexion contracture, Hyperextensibility of the finger joints, Long nose, Micrognath... OMIM:309520
Distal Trisomy 5Q
Craniosynostosis, Micrognathia, Microcephaly, Carious teeth, Short nose, Hernia, Hypertelorism, P... ORPHA:96097
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Depressed nasal bridge, Prominent metopic ridge, Microcephaly, Short nose, Mandibul... ORPHA:261144
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Sparse hair, Dry hair, Carious teeth, Microphthalmia, Hypopl... OMIM:133540
Moebius Syndrome
Hypertelorism, Depressed nasal bridge, Micrognathia, Camptodactyly, Arthrogryposis multiplex cong... OMIM:157900
Harel-Yoon Syndrome
Mandibular prognathia, Short nose, Micrognathia, Deeply set eye OMIM:617183
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Warburg Micro Syndrome 2
Low anterior hairline, Flexion contracture, Microcephaly, Short nose, Microphthalmia, Secondary m... OMIM:614225
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Micrognathia, Microcephaly, Microphthalmia, Wide nasal bridge ORPHA:1352
Rapp-Hodgkin Syndrome
Progressive alopecia, Sparse hair, Depressed nasal bridge, Narrow nose, Decreased number of sweat... OMIM:129400
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Congenital... ORPHA:3078
Craniofaciofrontodigital Syndrome
Dental malocclusion, Macrocephaly, Depressed nasal bridge, Short nose, Proptosis, Cubitus valgus,... OMIM:114620
Curry-Jones Syndrome
Generalized hirsutism, Craniosynostosis, Microphthalmia, Hypertelorism, Hypopigmented skin patches ORPHA:1553
Atelosteogenesis, Type Iii
Knee dislocation, Malar flattening, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxil... OMIM:108721
Distal Xq28 Microduplication Syndrome
Aplasia/Hypoplasia of the eyebrow, Broad nasal tip, Recurrent upper respiratory tract infections,... ORPHA:293939
Even-Plus Syndrome
Sparse hair, Depressed nasal ridge, Bifid nasal tip, Short nose, Synophrys, Highly arched eyebrow OMIM:616854
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Anophthalmia, Bilateral microphth... OMIM:601186
Warburg Micro Syndrome 4
Hirsutism, Low anterior hairline, Deeply set eye, Flexion contracture, Microphthalmia, Anteverted... OMIM:615663
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Multiple Benign Circumferential Skin Creases On Limbs
Generalized hirsutism, Irregular hyperpigmentation, Inguinal hernia, Micrognathia, Microcephaly, ... ORPHA:2505
Incontinentia Pigmenti
Sparse hair, Alopecia, Coarse hair, Delayed eruption of teeth, Hypoplasia of the fovea, Breast ap... OMIM:308300
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Sparse hair, Inguinal hernia, Malar flattening, Depressed nasal bridge, Microg... OMIM:602613
Marden-Walker Syndrome
Wide anterior fontanel, Joint contracture of the hand, Inguinal hernia, Micrognathia, Microcephal... OMIM:248700
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow... ORPHA:238468
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Secondary microcephaly, Primary microcephaly, Small for gestational age ORPHA:289266
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Microretrognathia, Short nose, Horizontal eyebrow, Microphthalmia, Hypertelorism, W... OMIM:618571
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypertrichosis, Macrocephaly, Craniosynostosis, Large for gestational age, Short nose, Long eyela... OMIM:213980
Toluene Embryopathy
Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Short nose, Biparietal narrowing ORPHA:1920
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Deeply set eye, Congenital diaphragmatic hernia, Long nose, Narrow nose, Campt... OMIM:617602
Isolated Arrhinia
Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... ORPHA:1134
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Anophthalmia, Hypoplasia of the maxilla, Umbilical hern... ORPHA:1101
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Short nose, Wide nasal bridge OMIM:614207
Acrofacial Dysostosis, Catania Type
Microretrognathia, Microcephaly, Coarse hair, Abnormal hair pattern, Spina bifida occulta, Hypopl... ORPHA:1786
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Optic nerve hypoplasia, Microcephaly, Microphthalmia OMIM:614833
Chromosome 1Q41-Q42 Deletion Syndrome
Deeply set eye, Hypotelorism, Congenital diaphragmatic hernia, Sparse eyebrow, Supernumerary nipp... OMIM:612530
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Talon cusp, Proximal radio-ulnar synostosis, Micrognathia, Abnor... ORPHA:363417
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Macrocephaly, Depressed nasal bridge, Micrognathia, Camptodactyly, Short nos... OMIM:616331
Desmosterolosis
Failure to thrive, Macrocephaly, Relative macrocephaly, Joint contracture of the hand, Micrognath... OMIM:602398
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Splenomegaly, Microcephaly, Thrombocytopenia, Microphthalmia... ORPHA:290
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Microphthalmia, Syndromic 2
Dental malocclusion, Contracture of the proximal interphalangeal joint of the 3rd toe, Decreased ... OMIM:300166
Osteoglophonic Dysplasia
Hypoplastic toenails, Eruption failure, Failure to thrive, Hypertelorism, Inguinal hernia, Cranio... OMIM:166250
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Retrognathia, Depressed nasal bridge, Micrognathia, Optic nerve... OMIM:618156
Angelman Syndrome
Fair hair, Blue irides, Hypopigmentation of the skin, Hypoplasia of the maxilla, Mandibular progn... OMIM:105830
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Convex nasal ridge, Malar flattening, Synostosis of carpal bon... ORPHA:3258
19P13.13 Microdeletion Syndrome
Macrocephaly, Deeply set eye, Malar flattening, Depressed nasal bridge, Optic nerve hypoplasia, S... ORPHA:357001
Myoclonic-Astatic Epilepsy
Frontal balding, Microcephaly, Thick nasal alae, Microphthalmia, Anteverted nares, Wide nasal bridge ORPHA:1942
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Short nose, Depressed nasal ridge, Microphthalmia ORPHA:163966
Axenfeld-Rieger Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the iris, Hypoplasia of the maxilla, Wide nasal bridge ORPHA:782
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Depressed nasal ridge, Optic nerve hypoplasia, Choanal atresia, Bilateral mi... OMIM:607597
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Short nose, Anteve... ORPHA:1458
Biemond Syndrome Type 2
Obesity, Microphthalmia ORPHA:141333
Jaberi-Elahi Syndrome
Joint stiffness, Failure to thrive, Sparse hair, Sparse eyebrow, Sparse eyelashes, Brittle hair, ... OMIM:617988
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Thick eyebrow, Flexion contracture, Low hanging columella, Facial hirsutism, Delayed cranial sutu... OMIM:619383
Vacterl With Hydrocephalus
Inguinal hernia, Retrognathia, Micrognathia, Anophthalmia, Femoral hernia, Microphthalmia, Hip di... ORPHA:3412
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Short nose, Prominent nasal bridge, Hyperconvex nail OMIM:613870
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Coronal craniosynostosis, Coarse hair, Aplasia/Hypo... ORPHA:2095
3Q29 Microdeletion Syndrome
Failure to thrive, Macrocephaly, Microcephaly, Short nose, Abnormality of skin pigmentation, Micr... ORPHA:65286
Cat-Eye Syndrome
Hypertelorism, Microphthalmia ORPHA:195
Bent Bone Dysplasia Syndrome 1
Hirsutism, Malar flattening, Coronal craniosynostosis, Micrognathia, Abnormally large globe, Hype... OMIM:614592
Fraser Syndrome 1
Dental malocclusion, Extension of hair growth on temples to lateral eyebrow, Absent eyebrow, Depr... OMIM:219000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 4th finger, Retrognathia, Micrognathia, Joint contractu... OMIM:618914
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Geroderma Osteodysplasticum
Recurrent fractures, Malar flattening, Hyperextensibility of the finger joints, Osteopenia, Micro... OMIM:231070
Ruvalcaba Syndrome
Generalized hirsutism, Convex nasal ridge, Inguinal hernia, Microcephaly, Synostosis of carpal bo... ORPHA:3121
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Dental malocclusion, Melanocytic nevus, Blue irides, Calvarial hyperostos... OMIM:101800
8P23.1 Microdeletion Syndrome
Deeply set eye, Congenital diaphragmatic hernia, Biparietal narrowing, Micrognathia, Microcephaly... ORPHA:251071
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Periorbital hyperpigmentation, Taurodontia, Sparse hair, Sparse eyebrow, Sparse ey... OMIM:305100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Hypotelorism, Thick eyebrow, Microcephaly, Radioulnar synostosis, Short nose, Enamel agenesis, Sy... OMIM:614701
Jacobsen Syndrome
Failure to thrive, Macrocephaly, Flexion contracture, Depressed nasal bridge, Micrognathia, Macul... OMIM:147791
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Deeply set eye, Micrognathia, Optic nerve hypoplasia, Short nose, Mandibular prognathia ORPHA:496790
Skin Creases, Congenital Symmetric Circumferential, 2
Depressed nasal bridge, Microcephaly, Micrognathia, Carious teeth, Microphthalmia OMIM:616734
14Q22Q23 Microdeletion Syndrome
Hypertelorism, Malar flattening, Micrognathia, Anophthalmia, Proptosis, Optic nerve aplasia, Unde... ORPHA:264200
Goldberg-Shprintzen Syndrome
Bulbous nose, Thick eyebrow, Sparse hair, Microcephaly, Highly arched eyebrow, Hypoplasia of the ... OMIM:609460
Diaphanospondylodysostosis
Depressed nasal ridge, Tracheomalacia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Abs... OMIM:608022
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Wormian bones, Osteoporosis, Joint laxity, Increased susceptibility to fractures, Mic... ORPHA:2788
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Sparse eyelashes, Camptodactyly of finger, Wide nasal bridge, Bifid nose, Hypopla... ORPHA:306542
Frontofacionasal Dysplasia
Hypertelorism, Malar flattening, Absent inner eyelashes, Bifid nose, Short nose, Hypoplasia of th... OMIM:229400
Bresek Syndrome
Convex nasal ridge, Alopecia, Optic nerve hypoplasia, Microcephaly, Microphthalmia ORPHA:85284
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Advanced eruption of teeth, Short nose, Joint laxity, Anteverted nares, Obesity,... OMIM:615873
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bulbous nose, Flexion contracture, Broad eyebrow, Hyperextensibility at wrists, Hypoplasia of the... ORPHA:481152
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short nose, Malar flattening OMIM:614524
Distal Monosomy 10Q
Hypoplastic toenails, Failure to thrive, Hypotelorism, Craniosynostosis, Micrognathia, Prominent ...