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Gene: Pfas MGI:2684864

Gene Summary

Name:

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms:

Sofa, 4432409B16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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
decreased circulating aspartate transaminase level		Pfas^em1(IMPC)J	HET		Early adult	5.00×10^-05
preweaning lethality, complete penetrance		Pfas^em1(IMPC)J	HOM		Early adult	0.00

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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

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electroretinography 3

Fundus file

10 Images

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X-ray

XRay Images Forepaw

12 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Pfas (0 diseases)
Human diseases predicted to be associated with Pfas (974 diseases)

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	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
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	Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,...	ORPHA:1355
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Microcephaly, Synophrys, Malar flattening, Short nose, Failure to...	ORPHA:217340
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Microphthalmia, Syndromic 12	Anophthalmia, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Wide nasal bridge, ...	OMIM:615524
Rhiny	Short nose, Anteverted nares	OMIM:180360
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Synophrys,...	OMIM:193510
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Joint hyperflexibility, Short ...	ORPHA:1695
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Hypertelorism, Obesity, Macrocephaly, Malar flatte...	OMIM:613670
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Truncal obe...	ORPHA:2429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Micrognath...	ORPHA:1466
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Microcephaly, Arthrogryposis multiplex congenita, Micrognathia	OMIM:616570
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Warburg Micro Syndrome 1	Anteverted nares, Micrognathia, Microcephaly, Osteoporosis, Wide nasal bridge, Deeply set eye, Fa...	OMIM:600118
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Mandibular aplasia, Short no...	ORPHA:1832
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Generalized h...	ORPHA:1514
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Low posterior hairline	ORPHA:1450
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Hypertelorism	OMIM:125700
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Hypertelorism, Melanocytic nevus, De...	ORPHA:261120
Pterygium Colli, Isolated	Short nose, Low posterior hairline	OMIM:177990
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose, Synophrys,...	ORPHA:411986
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe, Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Low posterior hai...	OMIM:611936
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Microphthalmia	OMIM:164180
Mmep Syndrome	Mandibular prognathia, Microphthalmia, Microcephaly	ORPHA:3434
Meckel Syndrome, Type 8	Anophthalmia, Microcephaly, Depressed nasal ridge, Microphthalmia, Short nose	OMIM:613885
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, Microcephaly	ORPHA:2528
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Patchy ...	ORPHA:85279
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Edinburgh Malformation Syndrome	Failure to thrive, Anteverted nares, Choanal atresia, Joint stiffness, Brushfield spots, Microgna...	ORPHA:1895
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Microphthalmia With Limb Anomalies	Failure to thrive, Anophthalmia, Depressed nasal bridge, Abnormal eyelash morphology, Capitate-ha...	OMIM:206920
Intellectual Developmental Disorder, X-Linked 91	Cubitus valgus, Short nose, Obesity, Low posterior hairline	OMIM:300577
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Prominent nose, Micrognathia, Microcephaly, D...	OMIM:610756
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephal...	OMIM:613544
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Broad eyebrow	OMIM:618302
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypoplasia of th...	OMIM:136760
Pierpont Syndrome	Joint laxity, Small for gestational age, Wide nasal ridge, Hypertelorism, Abnormal subcutaneous f...	ORPHA:487825
Pierpont Syndrome	Wide nose, Broad nasal tip, Microcephaly, Hypertelorism, Deeply set eye, Decreased body weight, M...	OMIM:602342
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Anteverted nares, Sparse eyelashes, Concave nail, Abnormality of hair texture, Wool...	OMIM:234050
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Hyp...	OMIM:122860
Chung-Jansen Syndrome	Thick eyebrow, Anteverted nares, Micrognathia, Hypertelorism, Synophrys, Obesity, Deeply set eye,...	OMIM:617991
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short nose, Failure to t...	OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of...	OMIM:620157
Fanconi Anemia, Complementation Group G	Microcephaly, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Leukemi...	OMIM:614082
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg...	ORPHA:2884
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Micrognathia, Cubitus valgus, Microcephaly, Knee flexion contracture...	OMIM:619694
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped nasal alae, Abnormal hai...	ORPHA:894
Seckel Syndrome 2	Few cafe-au-lait spots, Microcephaly, Prominent nose, Micrognathia, Microphthalmia	OMIM:606744
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplastic toenails, Hypoplasia of the zygomatic bone, Nail dysplasia, M...	ORPHA:2835
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp...	ORPHA:1529
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply s...	ORPHA:261304
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Non-Distal Duplication 13Q	Abnormal fingernail morphology, Micrognathia, Hypoplastic toenails, Abnormal eyelash morphology, ...	ORPHA:1702
Trisomy 1Q	Microretrognathia, Omphalocele, Wide nose, Anophthalmia, Depressed nasal bridge, Camptodactyly of...	ORPHA:261344
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Microcephaly, ...	OMIM:147250
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Prominent nasal bridge, ...	OMIM:214150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Microcephaly, Prominent nose, Micrognathia	OMIM:616171
Melanocytic Nevus Syndrome, Congenital	Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short ...	OMIM:137550
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares, Microcephaly	ORPHA:46
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Broad nasal tip	ORPHA:2776
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Temtamy Syndrome	Micrognathia, Joint hyperflexibility, Macrocephaly, Microphthalmia, Convex nasal ridge, Genu varum	ORPHA:1777
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Short nose, Progressive microcephaly	ORPHA:438178
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hypertelorism, Unilambdoid synostos...	OMIM:618577
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Micrognathia, Shallow orbits, Iris transil...	OMIM:617306
Trigonocephaly 1	Omphalocele, Craniosynostosis, Microcephaly, Synophrys, Wide nasal bridge, Hypotelorism, Metopic ...	OMIM:190440
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Broad nasal tip, Hypertelorism, Overweight, Recurrent u...	ORPHA:391372
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Hypertelorism,...	OMIM:617883
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Short nose, Distichiasis, Micrognathia	ORPHA:2598
Achondrogenesis	Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral den...	ORPHA:932
8Q22.1 Microdeletion Syndrome	Sparse eyelashes, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, Hypoplasia of...	ORPHA:178303
2Q24 Microdeletion Syndrome	Small for gestational age, Camptodactyly of finger, Hypertelorism, Microphthalmia, Failure to thrive	ORPHA:1617
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Scarring, Hypermelanotic macule, Delayed eruption of primary...	ORPHA:90322
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:1248
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Braddock-Carey Syndrome 2	Microphthalmia, Bulbous nose, Retrognathia, Microcephaly	OMIM:619981
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Blue irides, Advanced ossificati...	OMIM:614613
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Microcephaly, Hypertelorism, Congenital diaphragmatic hernia, Nail dystrop...	OMIM:300887
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Primary microcephaly	OMIM:245570
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Progressive microcephaly	OMIM:618737
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelo...	ORPHA:163649
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Hypertelorism, Obesity,...	ORPHA:171839
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Hypertelorism, Micrognathia, Wide nasal bridge, Microphthalmia, Decreased skull ossi...	ORPHA:93267
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys	DECIPHER:52
Peho-Like Syndrome	Short nose, Retrognathia, Progressive microcephaly	OMIM:617507
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Abn...	ORPHA:2399
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior ...	OMIM:619736
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar flattening	ORPHA:261295
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Wide anterio...	ORPHA:2143
Marshall-Smith Syndrome	Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Increased ...	ORPHA:561
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Anencephaly 2	Anophthalmia, Bifid nose	OMIM:619452
Perlman Syndrome	Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, Wide nasal bridge, Deeply set ey...	ORPHA:2849
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Epiphyseal stippling, P...	ORPHA:1914
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis i...	OMIM:166300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Failure to thrive, Prominent nasal bridge, Underdeveloped nasal alae, Mi...	ORPHA:364577
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hypertelorism, Multiple lipomas, Macrocephaly, Short nose, Cafe-au-lait spot	ORPHA:210548
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Small for gestational age, Highly arched eye...	OMIM:618804
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Freckling, Small for gestational age, Microcephaly, Flexion contract...	OMIM:601675
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Small for gestational age, Microcephaly	OMIM:278780
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Large for gestational age	ORPHA:2432
Cerebrooculonasal Syndrome	Anophthalmia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Abnormal nostril morphology	ORPHA:66625
Cerebrooculonasal Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hypoplasia, Cranio...	OMIM:605627
Trisomy 13	Anophthalmia, Abnormal eyelash morphology, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply s...	ORPHA:3378
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fi...	OMIM:619356
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Depressed nasal bridge, Hypertelorism, Sparse eyebrow, Hypoplasia of the maxi...	OMIM:167730
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Capitate-hamate fusion, Radial head subluxation, Wide nasal bridge, Coronal cranios...	OMIM:614078
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog...	ORPHA:2180
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Low anterior hairline...	OMIM:614219
Anophthalmia Plus Syndrome	Abnormal nasal morphology, Anophthalmia, Choanal atresia, Hypertelorism	ORPHA:1104
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Microcephaly, Camptodactyly of finger, Micrognathia	ORPHA:1495
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,...	ORPHA:2409
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Osteoporosis of vertebrae, Convex nasal ridge	OMIM:156510
Hydrolethalus	Anophthalmia, Micrognathia, Abnormality of the sense of smell, Deeply set eye, Microphthalmia, Re...	ORPHA:2189
Joubert Syndrome 37	Prominent metopic ridge, Wide nose, Anteverted nares, Hypertelorism, Wide nasal bridge, Obesity, ...	OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly	OMIM:300676
Keipert Syndrome	Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Aplastic/hypoplastic t...	ORPHA:2662
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Microphthalmia, Short nose	ORPHA:2547
Fetal Alcohol Syndrome	Anteverted nares, Joint stiffness, Micrognathia, Microcephaly, Biparietal narrowing, Microphthalm...	ORPHA:1915
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Microcephaly	ORPHA:1528
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Malar prominence, Micrognathia, Osteoporosis, Long eyelashes, Microphtha...	ORPHA:48431
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Wide nose, Anteverted nares, Small for gestational age, Dorsocervical fat pad, Micr...	ORPHA:391408
Trisomy 12P	Supernumerary nipple, Micrognathia, Hypertelorism, Wide nasal bridge, Aplasia/Hypoplasia of the i...	ORPHA:1699
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide anterior fonta...	OMIM:619135
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Anteverted nares, Abnormal fingernail morphology, Hypertelorism, Hypoplastic t...	ORPHA:2701
Achondrogenesis Type 1A	Femoral hernia, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Microgna...	ORPHA:93299
Baraitser-Winter Syndrome 1	Failure to thrive, Anteverted nares, Highly arched eyebrow, Microcephaly, Hypertelorism, Wide nas...	OMIM:243310
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Proptosis, Reduced bone mineral density	ORPHA:2370
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Obesity, Short nose, Low h...	OMIM:617752
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Delayed eruption of permanent teeth, Anteverted nares, Microcephaly	OMIM:618506
Achondrogenesis Type 1B	Femoral hernia, Anteverted nares, Abnormal enchondral ossification, Micrognathia, Macrocephaly, U...	ORPHA:93298
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Failure to thrive, Microcephaly	OMIM:274270
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Inguinal hernia, Hypertelorism, Short nose	ORPHA:217385
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Microcephaly	ORPHA:291
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Highly ...	ORPHA:1327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Genu valgum, Dis...	OMIM:608154
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Microphthalmia, Abnor...	OMIM:248450
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Brittle hair, Lipodystrophy, Abnor...	OMIM:219200
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Microcephaly, Hypertelorism, Retinal pigment epithelial...	OMIM:614105
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Sparse eyelashes, Underdeveloped nasal alae, Lon...	OMIM:257850
Potocki-Shaffer Syndrome	Sparse lateral eyebrow, Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Highly arched eyebrow, Bu...	OMIM:618828
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Umbilical hernia, Toenail dysplasia	OMIM:615297
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Joint stiffness, Hypertelorism, Synophrys, Anosmia, Hypopigmented skin patches, Genu valgum, Apla...	ORPHA:1295
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Depressed nasal bridge, Hypertelorism, Progressive macrocephaly, Hernia, Microphtha...	OMIM:602501
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Sparse eyebrow, Hyperte...	OMIM:620098
Smith-Kingsmore Syndrome	Curly hair, Depressed nasal bridge, Hypertelorism, Large for gestational age, Wide anterior fonta...	OMIM:616638
Holoprosencephaly	Anophthalmia, Congenital diaphragmatic hernia, Synophrys, Depressed nasal ridge, Hypotelorism, De...	ORPHA:2162
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Micrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, Dee...	OMIM:613604
Split-Hand/Foot Malformation 3	Microretrognathia, Ridged nail, Hypoplasia of the maxilla, Nail dystrophy, Nail dysplasia, Campto...	OMIM:246560
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Cachexia, Hypertelorism, Sparse eyebrow, Joint hyper...	ORPHA:884
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation, Microcephaly	OMIM:251270
Microphthalmia, Syndromic 8	Mandibular prognathia, Microphthalmia, Microcephaly	OMIM:601349
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Acromicric Dysplasia	Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Long eyelashes, Short nose	ORPHA:969
Ring Chromosome 10 Syndrome	Cachexia, Hypertelorism, Micrognathia, Wide nasal bridge, Microphthalmia	ORPHA:1438
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Micr...	OMIM:610758
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Foot joint contracture, Hypermelanotic macule, Delayed erupt...	ORPHA:90321
Acrocephalopolydactyly	Genu recurvatum, Short nose, Depressed nasal ridge, Hypertelorism	ORPHA:221054
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal nostril morphology, Hypotelorism, Microcephaly	ORPHA:3469
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Frontal balding	ORPHA:93945
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hypopigmented skin patches, Melanocytic nevus, Multip...	ORPHA:207
Congenital Disorder Of Glycosylation, Type Iu	Micrognathia, Hypotelorism, Congenital contracture, Secondary microcephaly, Short nose	OMIM:615042
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Hypertelorism, Bifid nasal tip, Microphthalmia	ORPHA:2717
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Microcephaly	ORPHA:93950
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hypertelorism, Synophrys, Short nose, Joint hypermobility	OMIM:300143
Verheij Syndrome	Joint laxity, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Small for gestational a...	OMIM:615583
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Highly arched eyebrow, Hypoplasia of the maxilla, Absent eye...	ORPHA:228396
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop...	ORPHA:950
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, Joi...	OMIM:618005
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Hypoplasia of the max...	ORPHA:50814
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Anteverted nares, Reduced bone mineral density, Joint hyperflexibility, Coarse h...	ORPHA:1185
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthal...	ORPHA:369891
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Macrocephaly, Microphthalmia, Short nose, Decreased skull ossification	OMIM:300863
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Hypertelorism, Synophrys, Wide nasal bridge, Obesity, Fine hair, Hypoplasia of teet...	OMIM:620250
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Osteopetrosis, Macrocephaly, Failure t...	OMIM:615085
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Inguinal hernia, Choanal atresia, Hypertelorism, Abnormali...	ORPHA:1135
Lujan-Fryns Syndrome	Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Joint h...	ORPHA:776
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Mi...	OMIM:613456
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum	OMIM:302950
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Le...	ORPHA:2791
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Micrognathia, Hypertelorism, Malar flattening, Short nose, Convex nasal ridge	ORPHA:2145
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Knee flexion contracture, Deeply set eye, Hernia, Spina...	OMIM:193700
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypertelorism, Fin...	ORPHA:228390
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Micrognathia, Low anterior hairline, Dental malocclusion, Hypotelorism, Contractures ...	ORPHA:329178
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Hi...	OMIM:145420
Al-Raqad Syndrome	Joint laxity, Microcephaly, Deeply set eye, Short nose, Hypopigmentation of the skin	OMIM:616459
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Wide ante...	OMIM:618272
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Brushfield spots, Depres...	ORPHA:1791
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Anteverted nares, Thick hair, Delayed closure of the...	ORPHA:357074
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Nail dysplasia, Microcephaly	ORPHA:139471
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly	ORPHA:397973
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Acroosteolysis of distal phalanges (feet), Micrognathia, Abnormal hair morphology, Oste...	ORPHA:90154
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Microcephaly, Hypertelorism, Deeply set eye, Sparse hair, Short nose, Hirs...	OMIM:618087
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Thick hair, Slow-growing hair, Joint stiffness, Prom...	ORPHA:2107
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypotelorism	OMIM:218670
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Microcephaly, Micrognathia, Joint contracture, Short nose	OMIM:615419
Bartsocas-Papas Syndrome	Alopecia totalis, Underdeveloped nasal alae, Micrognathia, Hypoplastic toenails, Microcephaly, Po...	ORPHA:1234
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Hypertelorism, Hypoplasia of the maxilla, Abnormal hair who...	OMIM:614261
Dysostosis, Stanescu Type	Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Abnorma...	ORPHA:1798
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Spars...	OMIM:268400
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy, Microcephaly, Thrombocytopenia...	ORPHA:858
Oculodentodigital Dysplasia	Narrow nasal bridge, Dry hair, Anteverted nares, Slow-growing hair, Narrow nose, Underdeveloped n...	OMIM:164200
Baraitser-Winter Syndrome 2	Microphthalmia, Retrognathia, Secondary microcephaly, Highly arched eyebrow	OMIM:614583
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Dee...	OMIM:615485
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Joint hyperflexibility, Short nose, Osteoarthritis	ORPHA:90653
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Anteverted nares, Fractured radius, Small for gestational age, Micrognathia, Multiple...	OMIM:616897
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Hypertelorism, Abnormality of skin pigmentation, Microphthalmia, Failure ...	OMIM:612379
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost...	OMIM:241310
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Highly ...	ORPHA:2083
Nance-Horan Syndrome	Mandibular prognathia, Prominent nasal bridge, Prominent nose, Supernumerary tooth, Microphthalmia	ORPHA:627
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Sparse eyelashes, Microcephaly, Bifid nasal tip, Sparse eyebrow, Unilateral mi...	OMIM:618874
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Camptodac...	ORPHA:1716
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Elbow dislocation, Hypertelorism, Patellar dislocation, Mal...	ORPHA:93328
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior fontanel, Wide ...	ORPHA:3309
Hartsfield Syndrome	Microphthalmia, Depressed nasal bridge, Craniosynostosis, Hypertelorism	ORPHA:2117
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Micro...	OMIM:610829
Monosomy 18P	Alopecia, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Low posterior hairline, M...	ORPHA:1598
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla...	ORPHA:763
Gomez-Lopez-Hernandez Syndrome	Alopecia, Anteverted nares, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Wormian bone...	OMIM:601853
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation, Macrocephaly, Malar flattening	OMIM:109120
Cohen Syndrome	Bone spicule pigmentation of the retina, Thick eyebrow, Prominent nasal bridge, Micrognathia, Hyp...	OMIM:216550
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Anteverted nares, Sparse...	OMIM:613026
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Hip dislocation, Macrocephaly, Short nose	OMIM:241800
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Depressed nasal bridge, Sparse eyelashes, Abnormal hair pattern, H...	ORPHA:35173
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Depressed nasal bridge, Craniosynostosis, Macrocephaly, Short nose	OMIM:614732
Encephalopathy Due To Sulfite Oxidase Deficiency	Deeply set eye, Short nose, Microcephaly	ORPHA:833
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Microcephaly, Flexion contracture, Osteoporosis, Secondary microcephaly,...	OMIM:615851
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Abnormal nasopharynx morphology, Hypertelorism, Wide nasal bridge, Nasal c...	OMIM:218400
5Q14.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Deeply set eye, Short nose, Thick eyebrow	ORPHA:228384
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Highly arched eyebrow, Hypoplasia of ...	OMIM:608156
Craniosynostosis 4	Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Hypertelorism, Macroce...	OMIM:600775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypertelorism, Short nose, Depressed nasal bridge, Microcephaly	OMIM:616910
Bartsocas-Papas Syndrome 2	Micrognathia, Wide anterior fontanel, Antecubital pterygium, Popliteal pterygium, Microphthalmia,...	OMIM:619339
Warburg Micro Syndrome 3	Micrognathia, Microcephaly, Flexion contracture, Low anterior hairline, Ankle clonus, Secondary m...	OMIM:614222
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Hypertelor...	OMIM:222448
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Micro...	OMIM:616920
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Primary microcephaly	OMIM:615771
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Hypertelorism, Low posterior hairline, Concave nasal ridge,...	OMIM:170100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Highly ar...	OMIM:615866
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis, Short nose, Coarse metaphysea...	OMIM:618961
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Ventral hernia, Omphalocele, Anteverted nares, Broad nasal tip, Micrognath...	OMIM:618529
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Anteverted nares, Micrognathia, Obesity, Microphthalmia, Synostosis of carpal bones	ORPHA:3191
Antley-Bixler Syndrome	Anteverted nares, Recurrent fractures, Choanal atresia, Craniosynostosis, Joint stiffness, Campto...	ORPHA:83
Cohen Syndrome	Abnormality of retinal pigmentation, Prominent nasal bridge, Thick hair, Micrognathia, Hypoplasia...	ORPHA:193
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Long ...	OMIM:617802
Fetal Trimethadione Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Synophrys, Short nose	ORPHA:1913
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Elbow dislocation, Hern...	ORPHA:93329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect...	OMIM:614069
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Congenital diaphr...	OMIM:618774
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ma...	OMIM:616367
Microphthalmia, Syndromic 13	Microphthalmia, Microcephaly	OMIM:300915
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Nail dystrophy, Hyperconvex toenail	ORPHA:99688
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Humero...	OMIM:101600
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Sparse eyelashes, Supernumerary nipple, Underdeveloped nasal alae, Hypopl...	OMIM:129400
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, Sparse eyebrow,...	OMIM:604173
Smith-Magenis Syndrome	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teet...	ORPHA:819
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Anophthalmia, Abnormal location o...	ORPHA:141099
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Anosmia, Single naris, Abs...	ORPHA:2250
Nanophthalmos 4	Microphthalmia	OMIM:615972
Micro Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Micrognathia, Joint stiffness, Microcephal...	ORPHA:2510
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Synophrys, Genu valgum, Reduced bone mineral density, Low posterior hairli...	ORPHA:2983
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Amelogenesis imperfecta	OMIM:601216
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism,...	OMIM:619833
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Oculogastrointestinal Neurodevelopmental Syndrome	Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Low hanging columella	OMIM:619318
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Osteoglosphonic Dysplasia	Inguinal hernia, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Hypertelorism...	ORPHA:2645
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Wide nose, Anophthalmia, Failure to thrive, Abnormal dental ...	ORPHA:2556
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathia, Microcephaly, ...	OMIM:614114
Fibular Hemimelia	Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitatio...	ORPHA:93323
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Hypotelorism, Deeply set eye, Sparse hair, Abn...	ORPHA:2710
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephaly, M...	OMIM:152950
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Hypertelorism, Abnor...	ORPHA:3163
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Aarskog-Scott Syndrome	Delayed eruption of teeth, Genu recurvatum, Anteverted nares, Camptodactyly of finger, Hypoplasia...	ORPHA:915
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Prominent metopic ridge, Small for gestational age, Choanal atresia, M...	OMIM:619148
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hyperpigmentation of the skin, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypoplas...	OMIM:106260
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Cleft ala nasi, Anophthalmia, Congenital hip dislocation, ...	OMIM:305600
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hypopigmented ...	ORPHA:53271
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Progressive microcephaly, Macrocephaly, Advanced e...	OMIM:617865
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Prominent nose, Hyp...	OMIM:618316
Temtamy Syndrome	Highly arched eyebrow, Micrognathia, Hypertelorism, Hip dislocation, Hypoplasia of teeth, Microph...	OMIM:218340
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Calcaneal epiphyseal stippling, Broad nasal tip, H...	ORPHA:79345
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Malar flattenin...	OMIM:242860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Cachexia	ORPHA:1389
Even-Plus Syndrome	Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Sparse hair, Short nose	OMIM:616854
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Microretrognathia, Depressed nasal bridge, Phalangeal dislocatio...	OMIM:251450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple,...	ORPHA:1812
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large globe, Broad nasal tip, Microgna...	OMIM:300749
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S...	OMIM:614753
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hypertelorism, Microcephaly, Hip dislocation, Short nose, Failure to thrive	OMIM:608776
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Wide nose, Anophthalmia, Anteverted nares, Mic...	ORPHA:2526
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Microphthalmia	ORPHA:324416
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Abnormal spleen morphology, Microphthalmia, Failur...	ORPHA:2470
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hypertelorism, Micrognathia, Retrognathia, Short nose, Thick nasal alae	ORPHA:163961
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypopla...	ORPHA:560
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Retrognath...	ORPHA:166272
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Hypertelorism, Syno...	ORPHA:401935
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Depressed nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, S...	OMIM:617061
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Microcephaly, Deeply set eye, Short nose	OMIM:300558
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Hypertelorism, Osteoporosis, Low pos...	ORPHA:85194
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
3Q29 Microduplication Syndrome	Craniosynostosis, Microcephaly, Wide nasal bridge, Obesity, Biparietal narrowing, Macrocephaly, A...	ORPHA:251038
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Highly arched eyeb...	ORPHA:363528
Fetal Hydantoin Syndrome	Microcephaly, Hypertelorism, Depressed nasal ridge, Low posterior hairline, Coarse hair, Hernia, ...	ORPHA:1912
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Hypertelorism, Microcephaly, Broad nasal tip, Wide nasal bridge, Short nose	OMIM:615716
Ohdo Syndrome, X-Linked	Inguinal hernia, Depressed nasal bridge, Prominent nose, Sparse eyebrow, Micrognathia, Bulbous no...	OMIM:300895
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Hyperconvex nail, Highly arched eyebrow, Abnormally large globe, Broad nas...	OMIM:239300
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Malar flattening, Short nose	ORPHA:79113
Pde4D Haploinsufficiency Syndrome	Joint laxity, Mandibular prognathia, Depressed nasal bridge, Abnormal dental enamel morphology, P...	ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Flexion contracture, Low anterior hairline, Wide nasal bridge, Short nose	OMIM:218000
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Hypotelorism, Microphthalmia, Tiger tail banding, Failu...	OMIM:616395
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Depressed nasal ridge, Genu valgum, Short nose	ORPHA:2831
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
Cardiofaciocutaneous Syndrome	Brittle hair, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Depressed nasal bridge, ...	ORPHA:1340
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Hypertelorism, Wide nasal bridge, Proptosis, Secondary microcephaly, Short nose	OMIM:618437
Martsolf Syndrome 1	Joint laxity, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, M...	OMIM:212720
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Hypertelorism, Deeply set eye, Short nose	OMIM:613443
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Microcephaly, Recurrent upper respiratory ...	ORPHA:293939
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Prominent eyelashes, Secondary microcephaly, Malar flattening, Sh...	OMIM:616420
Walker-Warburg Syndrome	Microphthalmia, Macrocephaly, Anophthalmia, Microcephaly	ORPHA:899
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Long eyelashes, Macrocephaly, Recurrent patellar dislocation, Microphthalmia	OMIM:615877
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce...	OMIM:614886
Ohdo Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal ...	OMIM:249620
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Sparse hair, Absent eyebrow, D...	OMIM:115150
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Warburg Micro Syndrome 2	Prominent nasal bridge, Microcephaly, Flexion contracture, Low anterior hairline, Deeply set eye,...	OMIM:614225
Harel-Yoon Syndrome	Mandibular prognathia, Deeply set eye, Short nose, Micrognathia	OMIM:617183
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Tracheomalacia, Micrognathia, Underdeve...	ORPHA:2108
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Tarsal synostosis, Prominent nasal bridge, Hypoplasia of the maxilla, Abnormal...	ORPHA:1307
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly	ORPHA:289266
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Hypotelori...	ORPHA:261211
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Hyperextensibility at wr...	ORPHA:544503
Rabin-Pappas Syndrome	Mandibular prognathia, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebro...	OMIM:620155
Curry-Jones Syndrome	Craniosynostosis, Hypertelorism, Hypopigmented skin patches, Microphthalmia, Generalized hirsutism	ORPHA:1553
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas...	ORPHA:3440
Ermine Phenotype	Hypopigmentation of hair, Abnormality of the nose, Ocular albinism, Hypopigmented skin patches, I...	ORPHA:999
Otopalatodigital Syndrome, Type I	Omphalocele, Delayed closure of the anterior fontanelle, Hypertelorism, Limited knee flexion, Cap...	OMIM:311300
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Hypertelorism, Large for gestational age, Bilateral ...	ORPHA:2563
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal fingernail morphology, Microcephaly, Hypertelorism, Hyperconvex t...	ORPHA:3079
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Distal Duplication 5Q	Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Microcephaly, Hyperteloris...	ORPHA:96097
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Micrognathia, Microcephaly, Recurrent uppe...	ORPHA:3078
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Anteverted nares, Slow-growing hair, Hypoplasia of the maxilla...	ORPHA:238468
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Joint laxity, Prominent nasal bridg...	OMIM:309520
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Femoral hernia, Micrognathia, Hip dislocation, Microphthalmia, Ret...	ORPHA:3412
Incontinentia Pigmenti	Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci...	OMIM:308300
Moebius Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Micrognathia, Hypertelorism, Camptodacty...	OMIM:157900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microceph...	OMIM:300534
Toluene Embryopathy	Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose	ORPHA:1920
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Bulbous nos...	ORPHA:261144
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Flexion contracture, Low anterior hairline, Deeply set ...	OMIM:615663
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Horizontal eyebrow, Microphtha...	OMIM:618571
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Atelosteogenesis, Type Iii	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Flat acetabul...	OMIM:108721
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contracture, Hi...	ORPHA:481152
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the ...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Flexion contracture, Microcephaly	OMIM:613155
Macrocephaly/Autism Syndrome	Joint laxity, Lymphopenia, Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesi...	OMIM:605309
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Thick eyebrow, Anteverted nares, Hypertelorism, Flexion contracture, Wide na...	OMIM:619383
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Coronal craniosynostosis, Coarse hair, Aplasia/...	ORPHA:2095
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microcephaly, Micrognathia, Ocular albinism, Wide nasal bridge, Microphthalmia	ORPHA:1352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Patchy osteosclerosis, Micrognathia, Microcephaly, Microphthalmia, Convex...	OMIM:241410
Fraser Syndrome 1	Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Anophthalmia, Underdeveloped n...	OMIM:219000
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Microcephaly, Micrognathia, Umbilical hernia, Microphthalmia, Irregular hyperpig...	ORPHA:2505
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Acrofacial Dysostosis, Catania Type	Microretrognathia, Abnormal hair pattern, Microcephaly, Carious teeth, Coarse hair, Hypoplasia of...	ORPHA:1786
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia	ORPHA:93262
Marden-Walker Syndrome	Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Wide anterior fontanel, Hypertelor...	OMIM:248700
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Tarsal synostosis, Abnormally large globe, Hypoplasia of the max...	ORPHA:363417
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Hypertelorism, Elbow dislocation, Hip dislocation, Radioulnar ...	ORPHA:3258
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip...	OMIM:300166
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina	OMIM:611040
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Abnormality of skin pigmentation, Joint hyperflexibility, M...	ORPHA:65286
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Hypertelorism, Deeply set eye, ...	ORPHA:357001
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Short nose, Depressed nasal ridge, Micrognathia	ORPHA:163966
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Deeply set eye, Short nose	ORPHA:496790
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Depressed nasal bridge, Wide nasal bridge	ORPHA:782
Microphthalmia, Syndromic 9	Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Bilateral microphth...	OMIM:601186
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Aniridia	ORPHA:1101
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Flexion contracture, Decreased body weight, Microphthalmia	OMIM:614833
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Choanal atresia, Abnormal hair morphology, Bilateral microphthalmos, Depr...	OMIM:607597
Myoclonic-Astatic Epilepsy	Anteverted nares, Frontal balding, Microcephaly, Wide nasal bridge, Microphthalmia, Thick nasal alae	ORPHA:1942
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Broad nasal tip, Sparse eyebrow, ...	OMIM:612530
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ...	OMIM:231070
Cat-Eye Syndrome	Microphthalmia, Hypertelorism	ORPHA:195
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip, Nail dysplasia, Genu valgum	OMIM:619142
Obesity And Hypopigmentation	Red hair	OMIM:620195
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Microcephaly, Humeroradial synostosis, Microphthalmia,...	OMIM:251230
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Deeply set eye, Concave nasal ridge, Malar flattening, ...	OMIM:613038
Jaberi-Elahi Syndrome	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Microcep...	OMIM:617988
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, ...	ORPHA:1458
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Microcephaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypopl...	ORPHA:290
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Peho Syndrome	Short nose, Retrognathia, Progressive microcephaly	OMIM:260565
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Blue irides, Secondary microcephaly, Fair hair,...	OMIM:105830
Bresek Syndrome	Alopecia, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Convex nasal ridge	ORPHA:85284
Ruvalcaba Syndrome	Inguinal hernia, Microcephaly, Abnormality of the elbow, Hypopigmented skin patches, Generalized ...	ORPHA:3121
Biemond Syndrome Type 2	Microphthalmia, Obesity	ORPHA:141333
Desmosterolosis	Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Micrognathi...	OMIM:602398
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Micrognathia, Lens coloboma, Joint contracture of the 4th...	OMIM:618914
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Depressed nasal bridge, Absent nipple, Sparse eyelashes, Underdevel...	OMIM:305100
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Mulberry molar, Supernumerary maxillary incisor, Micropht...	OMIM:302350
Bent Bone Dysplasia Syndrome 1	Natal tooth, Abnormally large globe, Micrognathia, Hypertelorism, Decreased calvarial ossificatio...	OMIM:614592
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Inguinal hernia, Hypertelorism, Atrophic scars...	OMIM:615539
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal br...	OMIM:166250
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Anteverted nares, Hyperte...	OMIM:305400
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Propto...	ORPHA:264200
Squalene Synthase Deficiency	Depressed nasal bridge, Optic nerve hypoplasia, Failure to thrive in infancy, Micrognathia, Elbow...	OMIM:618156
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Hyperconvex nail, Prominent nasal bridge, Short nose	OMIM:613870
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Wide nasal b...	ORPHA:251071
Holoprosencephaly 7	Omphalocele, Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Hypertelorism, Synophry...	OMIM:610828
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Delayed epiphysea...	OMIM:613320
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Highly arched eyebrow, Microcephaly, Hypertelorism, Synophrys, Wide nasal bridg...	OMIM:614701
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge	ORPHA:1540
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Obesity, Deeply set eye, Macrocephaly, Short nose	OMIM:618430
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal eyelash morphology, Microcephaly...	OMIM:147791
Galloway-Mowat Syndrome 1	Small for gestational age, Narrow nasal ridge, Prominent nose, Micrognathia, Microcephaly, Hypert...	OMIM:251300
Distal Deletion 10Q	Prominent metopic ridge, Failure to thrive, Prominent nasal bridge, Craniosynostosis, Prominent n...	ORPHA:96148
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Prominent nasal bridge, Hypertelorism	OMIM:618652
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Micrognathia, Abnormal nasal mor...	ORPHA:404440
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Dental malocclusion, Macro...	OMIM:616331
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Wormian bones, Mic...	ORPHA:2788
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Hypertelorism, Bifid nose, Midline defect of...	OMIM:229400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Wide nose, Relative macrocephaly, Prominent nasal bridge, Mi...	ORPHA:251028
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Hypopigmentation of hair, Anteverted nares, Iris hypopigmentation, Broad nas...	ORPHA:177907
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Abnormality of retinal pigmentat...	ORPHA:192
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Microcephaly, Hypertelorism, Prominent eyelashes, Wide nasal bridge, Shor...	OMIM:619179
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Narrow nose, Congenital diaphragmatic hernia, Long nose, Carious t...	OMIM:617602
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Sparse...	ORPHA:306542
Gapo Syndrome	Alopecia, Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, D...	OMIM:230740
Microphthalmia, Syndromic 5	Joint laxity, Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasa...	OMIM:620370
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:101800
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Delayed epiphyseal ossification, Osteoarthritis	OMIM:618618
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Depressed nasal bridge, Hypoplasia of the premaxilla, Tarsal synosto...	ORPHA:1106
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Mi...	ORPHA:391474
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Depressed nasal bridge, Craniosynostosis, Microcephaly, Hypertelorism, Malar flatteni...	OMIM:616723
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Scarring alopecia of scalp, Dental malocclusion, Wide nasal bridge,...	OMIM:618727
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn...	OMIM:123500
Hallermann-Streiff Syndrome	Natal tooth, Sparse scalp hair, Wormian bones, Sparse eyelashes, Prominent nasal bridge, Tracheom...	OMIM:234100
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Long eyebrows, Hypertelorism, Widow's peak, Wide nasal bridge, Long eyelas...	OMIM:201180
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, S...	ORPHA:3044
C Syndrome	Omphalocele, Fused sternal ossification centers, Anteverted nares, Micrognathia, Microcephaly, Hi...	OMIM:211750
Nager Syndrome	Sparse lower eyelashes, Joint stiffness, Hypoplasia of the maxilla, Abnormal nasal morphology, Mi...	ORPHA:245
Carpenter Syndrome 1	Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of th...	OMIM:201000
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Depressed nasal bridge, Choan...	OMIM:259775
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Lissencephaly 8	Microphthalmia, Microcephaly	OMIM:617255
Deafness, X-Linked 7	Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow	OMIM:301018
Branchiooculofacial Syndrome	Anophthalmia, Depressed nasal bridge, Supernumerary nipple, Broad nasal tip, Micrognathia, Malar ...	OMIM:113620
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Microcephaly...	ORPHA:2719
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Small for gestational age, Broad na...	ORPHA:488437
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Prominent metopic ridge, Failure to thrive, Prominent nasal bridge, Underdeveloped nasal alae, Mi...	OMIM:608670
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Anteverted nares, Synophrys, Anterior open-bite malocclusion, Short nose, Spina bifid...	OMIM:617877
Fraser Syndrome	Omphalocele, Cleft ala nasi, Depressed nasal bridge, Anophthalmia, Abnormal hair pattern, Underde...	ORPHA:2052
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,...	OMIM:620099
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Anteverted nares, Hypertelorism, Macrocephaly, Short nose	ORPHA:59315
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Metopic synostosis, Macrocephaly, Short nose, Failure to thrive	OMIM:613735
Chops Syndrome	Curly hair, Anteverted nares, Thick hair, Microcephaly, Hypertelorism, Synophrys, Obesity, Coarse...	OMIM:616368
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, Hypotelorism, Deeply set eye, Depressed nasal brid...	OMIM:618454
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Highly arched eyebrow, Bifid nasal tip, Cubitu...	ORPHA:2712
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Microcephaly,...	ORPHA:363659
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Macrocephaly, Hypotelorism...	OMIM:617822
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Sparse axillary hair, Mic...	OMIM:613803
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Underdeveloped nasal alae, Microcepha...	ORPHA:2315
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar aplasia, Breast ...	OMIM:613804
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Omphalocele, Cyclopia, Camptodactyly of f...	ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Highly arched eyebrow, Prominent nose, Micrognathia, Microcephaly, Bulbous...	OMIM:156200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Depressed nasal bridge, Anteverted nares, Large for gestational age, Osteoporosis, Ma...	OMIM:615398
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Thin nail, Highly arched eyebrow, Micr...	ORPHA:261112
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Highly arched eyebrow, Supern...	ORPHA:261494
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Acetabular dysplasia, Ret...	OMIM:616462
Marshall-Smith Syndrome	Brittle hair, Large sternal ossification centers, Synophrys, Choanal stenosis, Shallow orbits, Sp...	OMIM:602535
Trisomy 20P	Inguinal hernia, Anteverted nares, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Mi...	ORPHA:261318
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Rodrigues Blindness	Narrow nasal bridge, Microphthalmia, Sparse hair, Fine hair	OMIM:268320
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Wide anterior fontanel, Hyp...	OMIM:217980
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Microcephaly	OMIM:308350
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Brittle hair, Anteverted nares, Prominent na...	OMIM:607812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Treacher-Collins Syndrome	Failure to thrive, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Absent eyela...	ORPHA:861
Fibrochondrogenesis 2	Malar flattening, Short nose, Anteverted nares, Micrognathia	OMIM:614524
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad nasal tip, Microcephaly, Hypertelorism, Wide nasal bridge, Left unicoronal synostosis, Shor...	OMIM:614749
Cerebrofaciothoracic Dysplasia	Wide nose, Abnormal hair pattern, Hypertelorism, Synophrys, Low posterior hairline, Coarse hair, ...	ORPHA:1394
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Epiphyseal stippling, Stippled calcification in carpal bones, C...	OMIM:302960
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Bulbous nose, Malar flattening, Short nose, Retrognathia, Thick eyebrow	ORPHA:485405
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Thick eyebrow, Congenital hip dislocation, Depressed nasal bri...	OMIM:616007
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Incontinentia Pigmenti	Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifida occulta, Abnormality ...	ORPHA:464
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Shallow orbits, Short nose, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microcephaly, Neutropenia, Fused cervical vertebrae, Bone marrow hypocell...	OMIM:609053
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Anteverted nares, Genu recurvatum, Craniosynostosis, Micrognathia, Hypo...	OMIM:182212
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation,...	ORPHA:1806
Stevenson-Carey Syndrome	Prominent nasal tip, Anteverted nares, Underdeveloped nasal alae, Camptodactyly, Microphthalmia, ...	OMIM:611961
Stromme Syndrome	Prominent nasal bridge, Optic nerve hypoplasia, Micrognathia, Microcephaly, Hypertelorism, Wide n...	OMIM:243605
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Wide cranial sutures, Depressed nasal bridge, Micrognathia, Hypoplasia ...	OMIM:615546
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Microspherophaki...	OMIM:277600
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Flexion contra...	OMIM:608149
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Synophrys, Deeply set eye, Short nose	ORPHA:284169
Trichothiodystrophy	Osteopenia, Joint dislocation, Ridged nail, Multiple joint contractures, Brittle hair, Hypotelori...	ORPHA:33364
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Anteverted nares, Microcephaly, Hypertelorism, Sparse hair, Microphthalmia, Retr...	OMIM:616449
Waardenburg Syndrome, Type 1	Mandibular prognathia, White eyelashes, Partial albinism, White eyebrow, Underdeveloped nasal ala...	OMIM:193500
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mic...	OMIM:170390
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Secondary microcephaly	OMIM:613730
Teebi-Shaltout Syndrome	Slow-growing hair, Highly arched eyebrow, Underdeveloped nasal alae, Broad nasal tip, Microcephal...	OMIM:272950
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Wide ant...	OMIM:601390
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Relative macrocephaly, Depressed nasal bridge, Anteverted nare...	OMIM:271510
Fibrochondrogenesis 1	Omphalocele, Depressed nasal bridge, Anteverted nares, Hypoplastic toenails, Wide anterior fontan...	OMIM:228520
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Anteverted nares, Femoral hernia, Highly arched eyebrow, Microcephaly, Hypertelo...	ORPHA:96147
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:610015
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Anosmia, Hypopigmented skin patches, Blue irides, Premature grayi...	OMIM:613266
Rere-Related Neurodevelopmental Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Microphthalmia, Broad eyebrow	ORPHA:494344
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Synophrys, Wide nas...	OMIM:615803
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis...	ORPHA:794
8Q21.11 Microdeletion Syndrome	Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Abnor...	ORPHA:284160
Meckel Syndrome	Anophthalmia, Micrognathia, Microcephaly, Depressed nasal ridge, Aplasia/Hypoplasia of the iris, ...	ORPHA:564
Cerebrofacioarticular Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Microcep...	ORPHA:314679
Chromosome 8Q21.11 Deletion Syndrome	Underdeveloped nasal alae, Micrognathia, Hypertelorism, Wide nasal bridge, Pigmentary retinopathy...	OMIM:614230
Desmosterolosis	Increased bone mineral density, Failure to thrive, Depressed nasal bridge, Abnormality of the nos...	ORPHA:35107
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Malar flattening, Short nose, Prog...	OMIM:610536
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Inguinal hernia, Depressed nasal bridge, Micrognathia, Microcephaly, Hyp...	OMIM:613457
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Highly arched eyebrow, Microcephaly, Hypoplasia of the maxilla, Bulbous n...	OMIM:609460
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Depressed nas...	OMIM:612289
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nose, Micrognathia, Kn...	ORPHA:435638
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Depressed nasal bridge, Long nose, Deeply set eye, Malar flattening, Short nose, Join...	OMIM:618590
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Microp...	OMIM:206900
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Failure to thrive, Depressed nasal bridge, Tarsal sy...	ORPHA:90652
Stuve-Wiedemann Syndrome 1	Enlarged joints, Anteverted nares, Malar flattening, Micrognathia, Carious teeth, Osteoporosis, P...	OMIM:601559
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Obesity, Deeply set eye, Macrocephaly, Short nose, Joint hypermobi...	ORPHA:293948
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Short nose, Failure t...	OMIM:616430
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
3C Syndrome	Inguinal hernia, Depressed nasal bridge, Micrognathia, Hypertelorism, Wide nasal bridge, Macrocep...	ORPHA:7
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Hypertelorism, Decreased bo...	OMIM:608013
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Depressed nasal bridge, Choanal atresia, Highly arched e...	ORPHA:138
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Recurrent fractures, Hyper...	ORPHA:1775
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Microcephaly, Micrognathia, Hypoplastic nipples, Microphthalmia	OMIM:156610
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera...	OMIM:619859
Fanconi Anemia, Complementation Group R	Radial dysplasia, Microcephaly, Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:617244
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Baller-Gerold Syndrome	Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Aplasia/Hypoplasia of ...	ORPHA:1225
Khan-Khan-Katsanis Syndrome	Lymphopenia, Highly arched eyebrow, Delayed closure of the anterior fontanelle, Trichiasis, Micro...	OMIM:618460
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Hypertelorism, Proptosis, Short nose, Bicoronal synostosis	ORPHA:93258
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Microcephaly	ORPHA:77299
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Cachexia, Micrognathia, Joint hyperflexibility, Irregular hyperpigme...	ORPHA:109
Schneckenbecken Dysplasia	Advanced ossification of carpal bones, Advanced tarsal ossification, Flat acetabular roof, Macroc...	OMIM:269250
Focal Dermal Hypoplasia	Narrow nasal bridge, Omphalocele, Inguinal hernia, Alopecia, Abnormal dental enamel morphology, C...	ORPHA:2092
Shprintzen-Goldberg Syndrome	Osteopenia, Anteverted nares, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia...	ORPHA:2462
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Proptosis, Choanal stenosis, Short nose, Maxillozygomatic hyp...	ORPHA:1790
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Deeply set eye	ORPHA:261272
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Microcephaly, Thrombocytopenia, Reticulocytopenia, Anemi...	OMIM:600901
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Relative macrocephaly, Omphalocele, Prominent nose, Sparse eyebro...	OMIM:616300
Coffin-Siris Syndrome	Joint laxity, Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Depressed nasal bridge...	ORPHA:1465
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Microcephaly, Thrombocytopenia, Flexion contracture, Ret...	OMIM:227645
Alg9-Cdg	Microretrognathia, Omphalocele, Prominent metopic ridge, Depressed nasal bridge, Lipodystrophy, U...	ORPHA:79328
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Small for gestational age, Underdeve...	OMIM:616835
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Microcephaly, Wide nasal bridge, Short columella, Hypop...	OMIM:613603
Galloway-Mowat Syndrome 3	Microcephaly, Micrognathia, Hypertelorism, Hiatus hernia, Hip dislocation, Deeply set eye, Campto...	OMIM:617729
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Micrognathia, Hyper...	ORPHA:1974
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Bulbous nose, Deeply set eye, Microphthalmia, Overhanging nasal tip, Joint hypermobility, Low han...	OMIM:618494
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebro...	OMIM:244450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Flexion contracture, Microphthalmia, Progressive microcephaly	OMIM:615249
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Hypoplasia of the ...	OMIM:211380
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Inguinal hernia, Camptodactyly of finger, Micrognathia, Hypoplastic toen...	ORPHA:251014
Peho Syndrome	Anteverted nares, Microcephaly, Flexion contracture, Limitation of joint mobility, Biparietal nar...	ORPHA:2836
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple cent...	OMIM:613001
Tetrasomy 18P	Short nose, Microcephaly	ORPHA:3307
Mosaic Trisomy 1	Omphalocele, Microretrognathia, Depressed nasal bridge, Camptodactyly of finger, Congenital diaph...	ORPHA:1692
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Abnorma...	OMIM:619488
Mietens Syndrome	Wide nose, Joint stiffness, Elbow dislocation, Microcephaly, Hip dislocation, Wide nasal bridge, ...	ORPHA:2557
Cousin Syndrome	Dislocation of the femoral head, Micrognathia, Hypertelorism, Humeroradial synostosis, Low anteri...	OMIM:260660
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micr...	ORPHA:3301
Linear Nevus Sebaceus Syndrome	Alopecia, Genu recurvatum, Melanocytic nevus, Biparietal narrowing, Microphthalmia, Irregular hyp...	ORPHA:2612
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Microcephaly, Thrombocytopenia, Reticulocytopenia, Abnor...	OMIM:227650
Renal And Mullerian Duct Hypoplasia	Hypertelorism, Short nose, Micrognathia	OMIM:266810
Greenberg Dysplasia	Depressed nasal bridge, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Multiple pr...	OMIM:215140
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Depressed nasal bridge, Craniosynostosis, Microcephal...	OMIM:620005
Mosaic Trisomy 9	Camptodactyly of finger, Micrognathia, Elbow dislocation, Microcephaly, Bulbous nose, Limitation ...	ORPHA:99776
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Mala...	ORPHA:3103
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Inguinal hernia, Anteverted nares, Small for gestational age, Craniosynostosis, Broad...	ORPHA:363611
Femoral-Facial Syndrome	Radioulnar synostosis, Short nose, Inguinal hernia, Micrognathia	ORPHA:1988
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Inguinal hernia, Antev...	OMIM:303600
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyeb...	OMIM:601358
Ablepharon Macrostomia Syndrome	Absent eyebrow, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped...	ORPHA:920
Mend Syndrome	Prominent nasal bridge, Micrognathia, Hypertelorism, Wide anterior fontanel, Spotty hypopigmentat...	ORPHA:401973
Monosomy 9Q22.3	Delayed eruption of teeth, Large for gestational age, Joint hyperflexibility, Umbilical hernia, M...	ORPHA:77301
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Microcephaly, Bulbous nose, Wide nasal bridge, Joint hyperflexibility, Deeply se...	ORPHA:250989
Microlissencephaly-Micromelia Syndrome	Short nose, Failure to thrive, Secondary microcephaly, Generalized hypertrichosis	ORPHA:50810
Joubert Syndrome 14	Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Deeply set eye, Microphthalmia, Mal...	OMIM:614424
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Failure to thrive, Inguinal hernia, Anteverted nares, Mic...	OMIM:247200
Fanconi Anemia, Complementation Group F	Microcephaly, Thrombocytopenia, Anemia, Leukopenia, Cafe-au-lait spot, Bone marrow hypocellularit...	OMIM:603467
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small for gestational age, Craniosynostosis, Broad nasal tip, Micrognathi...	OMIM:309590
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypoplasia o...	OMIM:600920
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Choanal atresia, Hypertelorism, Synophrys, Anosmia, ...	OMIM:603457
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Dental malocc...	OMIM:616894
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Macrocephaly, Short nose	ORPHA:2746
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Abnormality of the knee, Depressed nasal bridge, Craniosynostosis, Malar flattening, ...	ORPHA:457395
Basel-Vanagaite-Smirin-Yosef Syndrome	Prominent nasal tip, Sparse scalp hair, Mandibular prognathia, Inguinal hernia, Anteverted nares,...	ORPHA:464738
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose, Spar...	ORPHA:314655
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Failure to thrive, Micrognathia, Low anterior hairline, Primary microcephaly, Short no...	OMIM:608779
Joubert Syndrome 21	Anophthalmia, Single naris, Chronic sinusitis, Hypertelorism	OMIM:615636
White-Kernohan Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Synophrys, Bro...	OMIM:619426
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Macrocephaly, Wide nasal ridge, Prominent nose	ORPHA:251061
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Small for gestational age, Prominent nasal bridge, Joint...	OMIM:139210
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Deeply set eye, Micrognathia	OMIM:614526
Robinow Syndrome	Fused thoracic vertebrae, Depressed nasal bridge, Anteverted nares, Small for gestational age, Br...	ORPHA:97360
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Absent nipple, Anteverted nares, Spa...	OMIM:209885
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Abnormal nasopharynx morphology, Sparse eyelashes, Choanal atresia, Sparse axi...	OMIM:129900
Mohr Syndrome	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip...	OMIM:252100
Bartsocas-Papas Syndrome 1	Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Unde...	OMIM:263650
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Microcephaly, Hypoplasia of teeth	ORPHA:2728
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Microcephaly...	OMIM:613805
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Frontal hirsutism, ...	OMIM:617157
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Optic nerve hypoplasia, Microcephaly, Flexion contracture, Genu valgum, Deeply set eye,...	OMIM:619321
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Dislocated radial head, Joint laxity, Vertebral fusion, Depressed nasal bridge, Ant...	OMIM:268310
Gracile Bone Dysplasia	Asplenia, Decreased skull ossification, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to ...	OMIM:602361
Autosomal Dominant Robinow Syndrome	Micrognathia, Alopecia, Depressed nasal bridge, Anteverted nares, Curly eyelashes, Hypertelorism,...	ORPHA:3107
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Toriello-Lacassie-Droste Syndrome	Generalized hyperpigmentation, Anteverted nares, Proptosis, Macrocephaly, Short nose, Failure to ...	ORPHA:3339
Meckel Syndrome 14	Microretrognathia, Anteverted nares, Micrognathia, Hypertelorism, Decreased calvarial ossificatio...	OMIM:619879
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Limb joint contracture, Shoulder flexion contracture, Micrognathia, Achilles ten...	OMIM:620369
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micrognathia, Mic...	OMIM:257300
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l...	OMIM:269150
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Micrognathia, Cessation of head growth, Contractures of the large joints, Progressive microcephal...	OMIM:617527
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Hiatus hernia, Elbow dislocation, Abnormality of the spleen, Microphthalmia, Failur...	ORPHA:2538
Au-Kline Syndrome	Prominent metopic ridge, Failure to thrive, Prominent nasal bridge, Wide nasal ridge, Underdevelo...	OMIM:616580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Hypertel...	OMIM:614080
Wiedemann-Steiner Syndrome	Microcephaly, Hypertelorism, Synophrys, Abnormality of the elbow, Wide nasal bridge, Long eyelash...	ORPHA:319182
Trisomy 10P	Wide cranial sutures, Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnorm...	ORPHA:171929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Low anterior hairline	OMIM:613153
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Microceph...	ORPHA:1449
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Prominent metopic ridge, Multiple joint contractures, Optic nerve hypoplasia, ...	ORPHA:468631
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Obesity	ORPHA:363741
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Synophrys, Eruption failure, Secondary microcephaly, Primary microcephaly, Short no...	ORPHA:476126
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Obesity	OMIM:601794
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cl...	OMIM:101400
Familial Exudative Vitreoretinopathy	Microphthalmia, Microcephaly, Reduced bone mineral density	ORPHA:891
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Abnormality of retinal pigmentation, Inguinal hernia, Anteverted nares, Block v...	OMIM:272460
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Hypertelorism, Limitation of joint mobility, Proptosis, ...	ORPHA:93259
Distal Deletion 9P	Hypertelorism, Wide nasal bridge, Proptosis, Hernia, Short nose	ORPHA:1642
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Weiss-Kruszka Syndrome	Prominent metopic ridge, Hypoplastic fingernail, Anteverted nares, Highly arched eyebrow, Short n...	OMIM:618619
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Low anterior hairli...	OMIM:180849
Lathosterolosis	Prominent metopic ridge, Anteverted nares, Microcephaly, Micrognathia, Bulbous nose, Anisopoikilo...	ORPHA:46059
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Hypertelorism, Trism...	OMIM:227330
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Micrognathia, Microcephaly, Contractures of the large jo...	ORPHA:521426
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Cyclopia...	ORPHA:280200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Prominent nasal bridge, Prominent nose, Cubitus valgus, Dental malocclus...	OMIM:601552
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, Widow...	OMIM:616975
Ayme-Gripp Syndrome	Mandibular prognathia, Broad eyebrow, Sparse scalp hair, Depressed nasal bridge, Hypertelorism, W...	OMIM:601088
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Large joint di...	ORPHA:536467
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:601499
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Hypertelorism...	ORPHA:1236
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Delayed closure of the anterior fontan...	OMIM:127000
Fryns Syndrome	Omphalocele, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Wide...	ORPHA:2059
Joubert Syndrome 2	Depressed nasal bridge, Hypertelorism, Metopic synostosis, Macrocephaly, Microphthalmia, Failure ...	OMIM:608091
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Aplastic anemia, Prominent nasal b...	OMIM:223370
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Micrognathia, Microcephaly, Depressed nasal ridge, Osteolysis, Abnormality of skin pig...	ORPHA:1052
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Microcephaly, Broad nasal tip, Hypoplastic fifth fingernail, Hypertelorism, Wide nasal bridge, Sh...	OMIM:614207
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Limited elbow movement, Craniosynostosis, Long nose, Mi...	ORPHA:508533
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Inguinal hernia, Craniosynostosis, Micrognathia, Microcephaly, Hypertelorism, Hip dislocation, Wi...	OMIM:609945
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hypertelorism, Kn...	OMIM:154780
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Recurrent joint dislocation, Inguinal hernia, Craniosynostosis, Hypertelorism,...	ORPHA:2953
Meier-Gorlin Syndrome 1	Joint laxity, Absent sternal ossification, Genu recurvatum, Hyperconvex nail, Micrognathia, Hypop...	OMIM:224690
Down Syndrome	Joint laxity, Depressed nasal bridge, Depressed nasal ridge, Obesity, Sparse hair, Umbilical hern...	ORPHA:870
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Microspherophaki...	OMIM:608328
Andersen-Tawil Syndrome	Joint laxity, Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxill...	ORPHA:37553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Stickler Syndrome	Joint dislocation, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, Micrognathia, H...	ORPHA:828
Orofaciodigital Syndrome Type 4	Joint dislocation, Wide nose, Failure to thrive, Choanal atresia, Camptodactyly of finger, Microg...	ORPHA:2753
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynostosis, H...	OMIM:265050
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Hypoplastic toenails, Hypertelorism, Bifid nose, T...	ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Microphthalmi...	ORPHA:974
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Hypertelorism, Irregular ossification of hand bones, Wid...	OMIM:109400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal alae, Micro...	OMIM:619005
Kapur-Toriello Syndrome	Camptodactyly of finger, Bulbous nose, Low posterior hairline, Microphthalmia, Joint contracture ...	OMIM:244300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Hypertelorism, Shallow orbits, Long eyelashes, Absent axillary hair, Mala...	OMIM:601353
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism...	OMIM:613458
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Abnormal nasopharynx morphology, Sparse eyelashes, Choanal atresia, Sparse axi...	OMIM:604292
Cowden Syndrome 5	Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia	OMIM:615108
Autosomal Recessive Robinow Syndrome	Alopecia, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Mic...	ORPHA:1507
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Supernumerary nipple, Wide anterior fontanel, Macrocephaly, Contractu...	ORPHA:457279
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Hypotelorism, Deeply set eye, Joi...	OMIM:612474
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Hypoplasia of the premaxilla, Microcephaly, Micrognathia, Hypotelorism, Absent nares...	ORPHA:2166
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Biparietal narrowing, Underdeveloped nasal alae	ORPHA:2031
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Microcephaly, Absent frontal sin...	OMIM:301040
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Freckling, Pigmentary retinopathy, Microcephaly	OMIM:610651
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Absent nipple, Depressed nasal bridge, Choanal atresia, Underdeveloped nasal alae, S...	OMIM:620186
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognath...	ORPHA:50945
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Cortical thickening of lon...	ORPHA:93325
Zttk Syndrome	Relative macrocephaly, Curly hair, Broad eyebrow, Depressed nasal bridge, Craniosynostosis, Spars...	OMIM:617140
Branchioskeletogenital Syndrome	Mandibular prognathia, Absent nipple, Depressed nasal bridge, Craniosynostosis, Broad nasal tip, ...	ORPHA:1299
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Fanconi Anemia, Complementation Group L	Micrognathia, Hypertelorism, Wide nasal bridge, Depressed nasal tip, Microphthalmia, Cafe-au-lait...	OMIM:614083
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Micrognathia, Hypertelorism, Wide anterior fontanel, Low pos...	OMIM:617925
Adenylosuccinase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares, Microcephaly	OMIM:103050
Refsum Disease	Abnormality of retinal pigmentation, Splenomegaly, Anosmia, Nail dysplasia, Microphthalmia	ORPHA:773
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Highly arched eyebrow, Micrognathia, Microcephaly, Hypertelorism, Wide nasal br...	ORPHA:2282
Microphthalmia, Syndromic 6	Anophthalmia, Micrognathia, Microcephaly, Lambdoidal craniosynostosis, Microphthalmia, Retrognathia	OMIM:607932
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Deeply set eye, Fragile nails, Shallow orbits, Hyperplasia of th...	OMIM:613406
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Limited elbow extension and supination, Inguinal hernia, Depressed nas...	OMIM:180700
Cowden Syndrome 6	Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia	OMIM:615109
Carey-Fineman-Ziter Syndrome	Short nose, Microcephaly, Anteverted nares, Micrognathia	ORPHA:1358
Atelis Syndrome 2	Microcephaly, Prominent nose, Micrognathia, Bulbous nose, Microphthalmia	OMIM:620185
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Craniosynostosis, Hypertelorism, Hiatus hernia, Abnormal zygomat...	ORPHA:3342
Monosomy 13Q14	Prominent nasal bridge, Microcephaly, Micrognathia, Hypertelorism, Wide nasal bridge, Microphthalmia	ORPHA:1587
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Gout, Hypotelorism, Sparse hair, Short nose, C...	OMIM:300661
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge,...	OMIM:309500
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vertebrae, Hiatus hernia...	ORPHA:50
Acrocallosal Syndrome	Mandibular prognathia, Microretrognathia, Inguinal hernia, Persistence of primary teeth, Hypertel...	OMIM:200990
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Elbow disloca...	ORPHA:2554
Aymé-Gripp Syndrome	Sparse scalp hair, Prominent metopic ridge, Inguinal hernia, Depressed nasal bridge, Craniosynost...	ORPHA:1272
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Microcephaly	ORPHA:370959
Kapur-Toriello Syndrome	Microphthalmia, Bulbous nose, Failure to thrive	ORPHA:2328
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Wormian bones, Anteverted nares, Abnormal fingernail morphology, Highly arched eyebro...	ORPHA:444077
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Prominent metopic ridge, Depressed n...	OMIM:614188
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Hip subluxation, Wide anterior fontanel, Hypertelorism, Dep...	OMIM:271665
Microphthalmia, Lenz Type	Delayed eruption of teeth, Microphthalmia, Camptodactyly of finger, Microcephaly	ORPHA:568
Atelosteogenesis, Type I	Depressed nasal bridge, Micrognathia, Elbow dislocation, Hypertelorism, Knee dislocation, Fused c...	OMIM:108720
Charge Syndrome	Omphalocele, Anophthalmia, Choanal atresia, Micrognathia, Microcephaly, Hypertelorism, Radial hea...	OMIM:214800
Omodysplasia 1	Depressed nasal bridge, Malar flattening, Micrognathia, Limited knee flexion, Wide nasal bridge, ...	OMIM:258315
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Cyclopia, Short ...	ORPHA:261236
Trisomy 8P	Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Microcephaly, Hyperteloris...	ORPHA:264450
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Narrow nose, Highly arched eyebrow, Microcephaly, Congenital d...	OMIM:301044
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Hypertelorism, Flat acetabular roof, Shallow orbits, Ma...	OMIM:258480
Pelvis-Shoulder Dysplasia	Hypoplastic acetabulae, Microphthalmia, Congenital hip dislocation, Spina bifida occulta	OMIM:169550
Okamoto Syndrome	Omphalocele, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Underdeveloped na...	ORPHA:2729
Skin Creases, Congenital Symmetric Circumferential, 2	Depressed nasal bridge, Micrognathia, Carious teeth, Microcephaly, Synophrys, Hypertelorism, Low ...	OMIM:616734
Fanconi Anemia	Choanal atresia, Micrognathia, Microcephaly, Hypertelorism, Hip dislocation, Hypopigmented skin p...	ORPHA:84
Cadds	Short nose, Micrognathia	ORPHA:369942
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Microcephaly	OMIM:617914
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Highly arched eyebrow, Sparse pubic hair, Wide nasal bridge, Microphthalmia	OMIM:110100
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Deeply set eye, Microretrognathia, Prominent metopic ri...	OMIM:300855
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Deeply set eye, Osteomalacia, Abnormal dental enamel morphol...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retrognathia, Optic nerve hypoplasia, Macrocephaly	OMIM:614643
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Hypertelorism, Limitation of joint mobility, Proptosis, ...	ORPHA:93260
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Gen...	ORPHA:508498
22Q11.2 Deletion Syndrome	Inguinal hernia, Prominent nasal bridge, Choanal atresia, Abnormal dental enamel morphology, Micr...	ORPHA:567
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone...	OMIM:259050
Fryns Syndrome	Microretrognathia, Omphalocele, Anteverted nares, Hypertelorism, Large for gestational age, Wide ...	OMIM:229850
Pallister-Hall Syndrome	Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Radial head subluxation, ...	OMIM:146510
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Inguinal hernia, Failure to thrive in infancy, Broad nasal tip, Microg...	ORPHA:798
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Microcephaly, Thrombocytopenia, Reticulocytopenia, Abnor...	OMIM:227646
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Macrocephaly at birth, Anteverted nares, Hyperpigmented/hypopigmented macules,...	ORPHA:280633
Cowden Syndrome 1	Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia	OMIM:158350
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis	OMIM:277450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Macrocephaly	OMIM:616538
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypotelorism	OMIM:619053
Curry-Jones Syndrome	Unicoronal synostosis, Hirsutism, Wormian bones, Microphthalmia, High anterior hairline, Bicorona...	OMIM:601707
C Syndrome	Joint dislocation, Omphalocele, Depressed nasal bridge, Anteverted nares, Abnormal hair pattern, ...	ORPHA:1308
Yunis-Varon Syndrome	Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Anteverted nares, Sparse sc...	ORPHA:3472
Oculopalatocerebral Syndrome	Microphthalmia, Microcephaly	OMIM:257910
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Widow's peak, Wide nas...	ORPHA:1519
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Abnormal hand bone ossificati...	OMIM:200600
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Lathosterolosis	Anteverted nares, Increased mean platelet volume, Microcephaly, Micrognathia, Acanthocytosis, Sch...	OMIM:607330
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Deeply set eye	OMIM:305390
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal atresia, Hypertelorism, Fused cer...	OMIM:607323
Distal Deletion 19P	Hypoplasia of the maxilla, Joint hyperflexibility, Alopecia, Thick eyebrow	ORPHA:96129
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Facial hirsutism, Acetabular dys...	ORPHA:2839
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Prominent nose, Micrognathia, Syn...	OMIM:619503
Meckel Syndrome, Type 4	Microphthalmia, Microcephaly	OMIM:611134
Congenital Fibrinogen Deficiency	Microphthalmia, Abnormality of the subungual region, Splenic rupture	ORPHA:335
Lymphedema-Distichiasis Syndrome	Micrognathia, Yellow nails, Cellulitis, Microphthalmia, Distichiasis	OMIM:153400
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairline, Generalized hirs...	ORPHA:199
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis, Depressed nasal...	ORPHA:95699
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Hypertelorism	OMIM:615145
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Thick eyebrow, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Un...	OMIM:618332
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Anteverted nares, Hiatus hernia, Microcephaly, Lip...	OMIM:304050
Acrocephalopolydactylous Dysplasia	Omphalocele, Short nose, Craniosynostosis, Hypertelorism	OMIM:200995
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Cockayne Syndrome Type 3	Dry hair, Carious teeth, Flexion contracture, Premature graying of hair, Deeply set eye, Progress...	ORPHA:90324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Joint stiffness, Thrombocytopenia, Flexion contr...	ORPHA:505248
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Anteverted ...	ORPHA:373
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Wide nose, Anteverted nares, Depressed nasal bridge, Ulnar deviation of th...	ORPHA:96334
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Supernumerary nipple, Micrognathia, Bulbous nose, Hip dislocation, Hypotelorism,...	OMIM:613884
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Abnormality of skin pigmentation, Deeply set eye, Decreased body weight, Hypopigmentat...	OMIM:619475
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Dry hair, Delayed erupt...	ORPHA:191
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Microcephaly, Hypotelorism, Aplasia of the nose, Microphthalmia, Cyclopia	ORPHA:3186
Pseudotrisomy 13 Syndrome	Omphalocele, Microcephaly, Hypotelorism, Microphthalmia, Cyclopia	OMIM:264480
Vitreoretinochoroidopathy	Microphthalmia, Pigmentary retinopathy	OMIM:193220
Toriello-Carey Syndrome	Microcephaly, Sparse eyebrow, Wide anterior fontanel, Micrognathia, Short nose	ORPHA:3338
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Inguinal hernia, Small for gestational age, Prominent nasal bridge, Failure to thrive in infancy,...	ORPHA:268261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Micrognathia, Microcephaly, Buphthalmos, Congenital contracture, Micropht...	OMIM:236670
Meckel Syndrome, Type 2	Omphalocele, Microphthalmia	OMIM:603194
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, ...	OMIM:619539
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Anteverted nares, Broad nasal tip, Carious teeth, Hypertelorism, High anterior hair...	OMIM:615873
Peroxisome Biogenesis Disorder 4B	Hypertelorism, Short nose, Macrocephaly	OMIM:614863
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Underdeveloped nasal alae, Craniosynostosis, Micrognathia, Malar flatt...	OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Joint laxity, Few cafe-au-lait spots, Optic nerve hyp...	OMIM:620330
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertelorism, Short nose, Microcephaly, Macrocephaly	OMIM:252160
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Microcephaly, Joint hypermobility, Aplasia/Hypoplasia of the nails	ORPHA:2714
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Aplasia of the nasal bone, Micrognathia, Joint stiffness, Hypertelorism, Secondary m...	OMIM:618820
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Microcephaly, Retrognathia, Short nose, Spina bifida occulta	OMIM:301030
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Hypertelorism, Left unilam...	OMIM:609942
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Molybdenum Cofactor Deficiency, Complementation Group A	Hypertelorism, Short nose, Microcephaly, Macrocephaly	OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Congenital contracture, Microcephaly	OMIM:613150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Curly hair, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal crani...	ORPHA:500150
Aspartylglucosaminuria	Mandibular prognathia, Inguinal hernia, Joint stiffness, Carious teeth, Hypertelorism, Wide nasal...	ORPHA:93
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Microcephaly, Phthisis bulbi, Osteoporosis, Increased susceptibi...	OMIM:259770
Neu-Laxova Syndrome 1	Wide nose, Micrognathia, Absent eyelashes, Primary microcephaly, Hypertelorism, Depressed nasal r...	OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Joint laxity, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla...	OMIM:617402
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Small nail, Short nose, J...	OMIM:231050
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Hypertelorism, Micrognathia	OMIM:115470
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Absent nasal septa...	OMIM:157170
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Camptodactyly of finger, Wrist swelling, Rickets, Hip dislocatio...	OMIM:309000
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Deeah Syndrome	Low posterior hairline, Decreased body weight, Prominent nasal tip, Short nose, Retrognathia, C1-...	OMIM:619004
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Joint laxity, Microretrognathia, Scarring, Hypertelorism, Hiatus hernia, Gener...	OMIM:601776
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Jacobsen Syndrome	Inguinal hernia, Anteverted nares, Hypertelorism, Hip dislocation, Wide nasal bridge, Macrocephal...	ORPHA:2308
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Craniofacial Microsomia 1	Anophthalmia, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Genu valgum, Microphthalm...	OMIM:164210
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypoplasia of the maxilla, Wide nasal bridge, Hypoplasia of the iris, Aniridia	OMIM:180500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Microcephaly, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Malar flatteni...	OMIM:253280
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Inguinal hernia, Anteverted nares, Choanal atresia, Hypertelorism...	ORPHA:672
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
8Q24.3 Microdeletion Syndrome	Joint laxity, Microretrognathia, Inguinal hernia, Congenital hip dislocation, Anteverted nares, O...	ORPHA:508488
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H...	OMIM:601803
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis, Joint stiffness	ORPHA:2588
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Medial flaring of the eyebrow, Inguinal hernia, Depressed nasal bridge,...	OMIM:194050
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Abnormal location of the eyebrow, Widow's peak, H...	ORPHA:522077
Holoprosencephaly 1	Proboscis, Microcephaly, Hypotelorism, Aplasia of the nose, Microphthalmia, Cyclopia	OMIM:236100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Brittle Cornea Syndrome	Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra...	ORPHA:90354
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Low anterior hairline, Hypoplasia of the thymus, Microphtha...	OMIM:617666
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Meckel Syndrome, Type 1	Omphalocele, Natal tooth, Camptodactyly of finger, Micrognathia, Microcephaly, Hypertelorism, Hyp...	OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, C...	OMIM:614437
Tetraamelia Syndrome 1	Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Single naris, Microphthalmia	OMIM:273395
Geleophysic Dysplasia 2	Hypertelorism, Short nose, Limitation of joint mobility, Joint stiffness	OMIM:614185
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Hip dislocation, Osteolytic d...	OMIM:182250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Aplasia of the thymus, Broad nasal tip, Low anterior hairline, Depressed ...	OMIM:618223
Treacher Collins Syndrome 1	Sparse lower eyelashes, Choanal atresia, Micrognathia, Bilateral microphthalmos, Preauricular hai...	OMIM:154500
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Flexion contracture	OMIM:253800
Acro-Renal-Ocular Syndrome	Vertebral fusion, Optic disc hypoplasia, Hypertelorism, Radial club hand, Microphthalmia	ORPHA:959
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Hypoplasia of the iris, Macular hyp...	OMIM:609049
Acromesomelic Dysplasia 1	Joint laxity, Short nose, Limited elbow extension, Short nail	OMIM:602875
Williams Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Spina bifida occulta, Joint laxity, Increased bon...	ORPHA:904
Phocomelia, Schinzel Type	Short nose, Humeroradial synostosis, Nail dysplasia, Micrognathia	ORPHA:2879
Microphthalmia, Syndromic 1	Anophthalmia, Microcephaly, Agenesis of maxillary lateral incisor, Camptodactyly, Microphthalmia,...	OMIM:309800
Mowat-Wilson Syndrome	Prominent nasal tip, Delayed eruption of teeth, Supernumerary nipple, Microcephaly, Hypertelorism...	OMIM:235730
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Hypoplastic toenails, Bulbous nose, Carious teeth, ...	OMIM:619522
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Cachexia, Microcephaly, Hypotelorism, Hypopl...	ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Pigmentary retinopathy, Congenital diaphragmatic hernia, Microcephaly	OMIM:309801
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Short nail, Sup...	OMIM:312870
Peters-Plus Syndrome	Joint laxity, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Wide anterior font...	OMIM:261540
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Floating-Harbor Syndrome	Narrow nasal bridge, Enlarged joints, Broad nasal tip, Hypoplasia of the maxilla, Carious teeth, ...	ORPHA:2044
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Microphthalmia, Heterochromia iridis	ORPHA:42775
Steinfeld Syndrome	Microphthalmia, Aplasia of the nose	OMIM:184705
Papillorenal Syndrome	Joint laxity, Microphthalmia	OMIM:120330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:85167
Femoral-Facial Syndrome	Inguinal hernia, Limited elbow movement, Underdeveloped nasal alae, Micrognathia, Humeroradial sy...	OMIM:134780
Peters Plus Syndrome	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Hypertelor...	ORPHA:709
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Hypertelorism, Flexion contracture, Wide nasal ...	ORPHA:261537
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Microcephaly, Small nail, Microphthalmia	OMIM:100300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Histiocytoid Cardiomyopathy	Microphthalmia, Failure to thrive, Congenital aphakia	ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Highly arched eyebrow, Hypertelorism, Flexion c...	ORPHA:261552
Hydrolethalus Syndrome 1	Omphalocele, Micrognathia, Bifid nose, Midline defect of the nose, Microphthalmia	OMIM:236680
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent fractures, Microcephaly, Hyperteloris...	ORPHA:2152
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Hypoplasia of the maxilla, Flat acetabular roof, Delayed ossification of carpal bon...	OMIM:300106
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hemolytic anemia	OMIM:175780
Townes-Brocks Syndrome	Microphthalmia, Failure to thrive	ORPHA:857

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pfas

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pfas.

No publications found that use IMPC mice or data for Pfas.

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MGI Allele	Allele Type	Produced
Pfas^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pfas^em1(IMPC)J	Exon Deletion	Mice
Pfas^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pfas MGI:2684864

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Pfas mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data