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CODAS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	CEREBRAL, OCULAR, DENTAL, AURICULAR, SKELETAL ANOMALIES SYNDROME Cerebro-oculo-dento-auriculo-skeletal syndrome
Number of Symptoms	68
OrphanetNr:	1458
OMIM Id:	600373
ICD-10:	Q87.8
UMLs:	C1838180
MeSH:	C536434
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	3 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000143)	Rectovaginal fistula	rare [HPO:skoehler]	18 / 7739
2	(HPO:0000072)	Hydroureter	Occasional [Orphanet]	146 / 7739
3	(HPO:0000028)	Cryptorchidism	rare [HPO:skoehler]	347 / 7739
4	(HPO:0000366)	Abnormality of the nose	Very frequent [Orphanet]	56 / 7739
5	(HPO:0012368)	Flat face	Very frequent [Orphanet]	106 / 7739
6	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
7	(HPO:0002682)	Broad skull		5 / 7739
8	(HPO:0000286)	Epicanthus	Very frequent [Orphanet]	371 / 7739
9	(HPO:0006297)	Hypoplasia of dental enamel		64 / 7739
10	(HPO:0006482)	Abnormality of dental morphology	Very frequent [Orphanet]	81 / 7739
11	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
12	(HPO:0000682)	Abnormality of dental enamel	Very frequent [Orphanet]	102 / 7739
13	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
14	(HPO:0000684)	Delayed eruption of teeth	Very frequent [Orphanet]	117 / 7739
15	(HPO:0000639)	Nystagmus	Occasional [Orphanet]	555 / 7739
16	(HPO:0000508)	Ptosis	Frequent [Orphanet]	459 / 7739
17	(HPO:0000486)	Strabismus	Occasional [Orphanet]	576 / 7739
18	(HPO:0000518)	Cataract	Very frequent [Orphanet]	454 / 7739
19	(HPO:0000519)	Congenital cataract		73 / 7739
20	(HPO:0008544)	Abnormally folded helix	Very frequent [Orphanet]	24 / 7739
21	(HPO:0011039)	Abnormality of the helix	Very frequent [Orphanet]	33 / 7739
22	(HPO:0008527)	Congenital sensorineural hearing impairment		165 / 7739
23	(HPO:0000407)	Sensorineural hearing impairment	Frequent [Orphanet]	524 / 7739
24	(HPO:0008625)	Severe sensorineural hearing impairment		150 / 7739
25	(HPO:0001250)	Seizures	rare [HPO:skoehler]	1245 / 7739
26	(HPO:0001604)	Vocal cord paresis		8 / 7739
27	(HPO:0001263)	Global developmental delay		853 / 7739
28	(HPO:0005792)	Short humerus		34 / 7739
29	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
30	(HPO:0001385)	Hip dysplasia	Frequent [Orphanet]	242 / 7739
31	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
32	(HPO:0011867)	Abnormality of the wing of the ilium	Frequent [Orphanet]	123 / 7739
33	(HPO:0100255)	Metaphyseal dysplasia		26 / 7739
34	(HPO:0001382)	Joint hypermobility	Frequent [Orphanet]	231 / 7739
35	(HPO:0002857)	Genu valgum		144 / 7739
36	(HPO:0009803)	Short phalanx of finger		79 / 7739
37	(HPO:0009623)	Proximal placement of thumb	rare [HPO:skoehler]	50 / 7739
38	(HPO:0003312)	Abnormal form of the vertebral bodies	Very frequent [Orphanet]	172 / 7739
39	(HPO:0001374)	Congenital hip dislocation		51 / 7739
40	(HPO:0001163)	Abnormality of the metacarpal bones	Very frequent [Orphanet]	149 / 7739
41	(HPO:0005930)	Abnormality of epiphysis morphology	Very frequent [Orphanet]	119 / 7739
42	(HPO:0003417)	Coronal cleft vertebrae		14 / 7739
43	(HPO:0003177)	Squared iliac bones		7 / 7739
44	(HPO:0010049)	Short metacarpal		99 / 7739
45	(HPO:0002750)	Delayed skeletal maturation	Very frequent [Orphanet]	250 / 7739
46	(HPO:0003311)	Hypoplasia of the odontoid process		34 / 7739
47	(HPO:0001216)	Delayed ossification of carpal bones		30 / 7739
48	(HPO:0001561)	Polyhydramnios		191 / 7739
49	(HPO:0005242)	Extrahepatic biliary duct atresia	Occasional [Orphanet]	9 / 7739
50	(HPO:0001539)	Omphalocele	rare [HPO:skoehler]	102 / 7739
51	(HPO:0002023)	Anal atresia	rare [HPO:skoehler]	135 / 7739
52	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
53	(HPO:0006695)	Atrioventricular canal defect		27 / 7739
54	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
55	(HPO:0001631)	Atria septal defect		274 / 7739
56	(HPO:0001600)	Abnormality of the larynx	Occasional [Orphanet]	15 / 7739
57	(HPO:0010547)	Muscle flaccidity		466 / 7739
58	(HPO:0001324)	Muscle weakness		859 / 7739
59	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
60	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
61	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
62	(OMIM)	Length less than 5th percentile		1 / 7739
63	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
64	(OMIM)	Median nasal groove		1 / 7739
65	(OMIM)	Abnormal cusp morphology		1 / 7739
66	(OMIM)	Flat, irregular acetabular margins		1 / 7739
67	(OMIM)	Overfolded, rumpled ears		1 / 7739
68	(HPO:0002079)	Hypoplasia of the corpus callosum		161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Shebib et al. (1991) described a newly recognized multiple congenital anomalies syndrome characterized by cerebral, ocular, dental, auricular, and skeletal abnormalities and designated by the acronym CODAS syndrome. Cabral de Almeida et al. (1995) reported a patient, followed ... Shebib et al. (1991) described a newly recognized multiple congenital anomalies syndrome characterized by cerebral, ocular, dental, auricular, and skeletal abnormalities and designated by the acronym CODAS syndrome. Cabral de Almeida et al. (1995) reported a patient, followed for 5 years, with a strikingly similar phenotype: psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiologic findings of spondyloepiphyseal dysplasia. Both of the reported cases were sporadic and were female. Parental consanguinity was absent in both cases. Cabral de Almeida et al. (1995) suggested autosomal recessive inheritance, a fresh mutation of an autosomal dominant disorder, or an X-linked dominant mutation with lethality in males. Innes et al. (2001) described a third case of particular significance because it involved a male infant who, like the patient reported by Shebib et al. (1991), was of Mennonite ancestry. The child, 2 years old at the time of report, exhibited ptosis, cataracts, overfolded ears, grooved nasal tip, dental projections, developmental delay, and characteristic skeletal anomalies (delayed epiphyseal ossification in the upper and lower extremities, vertebral coronal clefts with deformed vertebral bodies, and abnormally shaped iliac bones). Innes et al. (2001) suggested the possibility of autosomal recessive inheritance in this disorder; however, there had not been a familial recurrence to the time of this study. Marlin et al. (2010) reported a 5-year-old boy, born of first-cousin parents of Moroccan origin, who presented features consistent with CODAS syndrome. He had short stature and facial dysmorphism including a broad forehead with prominent metopic suture, thin eyebrows, bilateral ptosis, small nose with grooved nasal tip, anteverted nares, flat nasal bridge, short philtrum, small chin, low-set ears with 'crumpled' upper hypoplastic helices, and a flat facial profile. He had moderate mental retardation with a normal neurologic exam and did not have hearing impairment or speech delay. Dental examination revealed delayed tooth eruption, small teeth, protrusion of the maxillary and mandibular central incisors, and pointed extensions at cusp tips. Enamel dysplasia was noted, and he had several decayed teeth. Skeletal survey demonstrated delayed bone age, coronal clefts of the lumbar vertebrae, and squared iliac bones with flat acetabular margins and dislocated hips. Epiphyseal ossification was severely delayed with absent or reduced epiphyses of both long bones and short tubular bones. He did not have hypotonia as noted in the previous 3 patients but did have significant hypermobility. In addition, this patient presented 4 features previously unreported in CODAS syndrome: ventricular septal defect with pulmonary hypertension, extrahepatic bile duct atresia, dilation of the left ureter, and bilateral laryngeal palsy. Karyotype and metabolic screening were normal, and array CGH analysis did not detect any copy number loss or gain in the patient.

Symptoms & Signs

	Field	Query
	Disease
	Symptom