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Cerebro-facio-thoracic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:	Pascual-Castroviejo syndrome type 1
Number of Symptoms	118
OrphanetNr:	1394
OMIM Id:	213980
ICD-10:	Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Dysostosis with predominant vertebral and costal involvement
-Rare bone disease
-Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000077)	Abnormality of the kidney	rare [HPO:skoehler]	73 / 7739
2	(HPO:0000049)	Shawl scrotum		31 / 7739
3	(HPO:0000535)	Sparse and thin eyebrow		76 / 7739
4	(HPO:0011800)	Midface retrusion	Very frequent [Orphanet]	221 / 7739
5	(HPO:0000202)	Oral cleft	Occasional [Orphanet]	120 / 7739
6	(HPO:0001363)	Craniosynostosis	rare [HPO:skoehler]	132 / 7739
7	(HPO:0003196)	Short nose	Frequent [Orphanet]	264 / 7739
8	(HPO:0000527)	Long eyelashes		46 / 7739
9	(HPO:0000154)	Wide mouth	Very frequent [Orphanet]	137 / 7739
10	(HPO:0000175)	Cleft palate		349 / 7739
11	(HPO:0012368)	Flat face		106 / 7739
12	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
13	(HPO:0006347)	Microdontia of primary teeth		4 / 7739
14	(HPO:0000252)	Microcephaly	rare [HPO:skoehler]	832 / 7739
15	(HPO:0000574)	Thick eyebrow	Very frequent [Orphanet]	96 / 7739
16	(HPO:0000288)	Abnormality of the philtrum	Very frequent [Orphanet]	54 / 7739
17	(HPO:0000248)	Brachycephaly	Very frequent [Orphanet]	222 / 7739
18	(HPO:0000494)	Downslanted palpebral fissures	Frequent [Orphanet]	328 / 7739
19	(HPO:0000204)	Cleft upper lip		193 / 7739
20	(HPO:0200141)	Small, conical teeth		2 / 7739
21	(HPO:0000327)	Hypoplasia of the maxilla		129 / 7739
22	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
23	(HPO:0000664)	Synophrys	Frequent [Orphanet]	112 / 7739
24	(HPO:0000347)	Micrognathia		426 / 7739
25	(HPO:0000445)	Wide nose	Very frequent [Orphanet]	190 / 7739
26	(HPO:0002553)	Highly arched eyebrow		92 / 7739
27	(HPO:0009553)	Abnormality of the hairline	Frequent [Orphanet]	30 / 7739
28	(HPO:0000582)	Upslanted palpebral fissure		185 / 7739
29	(HPO:0000212)	Gingival overgrowth		43 / 7739
30	(HPO:0000256)	Macrocephaly	Frequent [Orphanet]	298 / 7739
31	(HPO:0000341)	Narrow forehead		96 / 7739
32	(HPO:0002162)	Low posterior hairline	Frequent [Orphanet]	88 / 7739
33	(HPO:0000294)	Low anterior hairline		52 / 7739
34	(HPO:0000470)	Short neck	Very frequent [Orphanet]	345 / 7739
35	(HPO:0000653)	Sparse eyelashes		58 / 7739
36	(HPO:0000218)	High palate		356 / 7739
37	(HPO:0007754)	Macular dystrophy		26 / 7739
38	(HPO:0001488)	Bilateral ptosis		42 / 7739
39	(HPO:0000486)	Strabismus	Frequent [Orphanet] rare [HPO:skoehler]	576 / 7739
40	(HPO:0000508)	Ptosis	rare [HPO:skoehler]	459 / 7739
41	(HPO:0000608)	Macular degeneration		36 / 7739
42	(HPO:0011504)	Bull's eye maculopathy	rare [HPO:skoehler]	8 / 7739
43	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
44	(HPO:0000368)	Low-set, posteriorly rotated ears		38 / 7739
45	(HPO:0000369)	Low-set ears		372 / 7739
46	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
47	(HPO:0000742)	Self-mutilation	rare [HPO:skoehler]	27 / 7739
48	(HPO:0007018)	Attention deficit hyperactivity disorder	rare [HPO:skoehler]	56 / 7739
49	(HPO:0000739)	Anxiety	rare [HPO:skoehler]	67 / 7739
50	(HPO:0001270)	Motor delay		322 / 7739
51	(HPO:0001249)	Intellectual disability		1089 / 7739
52	(HPO:0006610)	Wide intermamillary distance		46 / 7739
53	(HPO:0002558)	Supernumerary nipple		40 / 7739
54	(HPO:0000824)	Growth hormone deficiency	rare [HPO:skoehler]	56 / 7739
55	(HPO:0001761)	Pes cavus		225 / 7739
56	(HPO:0000921)	Missing ribs	Very frequent [Orphanet]	62 / 7739
57	(HPO:0001388)	Joint laxity		117 / 7739
58	(HPO:0000960)	Sacral dimple		29 / 7739
59	(HPO:0001838)	Rocker bottom foot		85 / 7739
60	(HPO:0006136)	Bilateral postaxial polydactyly		30 / 7739
61	(HPO:0003312)	Abnormal form of the vertebral bodies	Frequent [Orphanet]	172 / 7739
62	(HPO:0002650)	Scoliosis	Frequent [Orphanet] rare [HPO:skoehler]	705 / 7739
63	(HPO:0000902)	Rib fusion		19 / 7739
64	(HPO:0001162)	Postaxial hand polydactyly		119 / 7739
65	(HPO:0001765)	Hammertoe		63 / 7739
66	(HPO:0000774)	Narrow chest	Very frequent [Orphanet]	167 / 7739
67	(HPO:0001763)	Pes planus	rare [HPO:skoehler]	176 / 7739
68	(HPO:0001845)	Overlapping toe	rare [HPO:skoehler]	18 / 7739
69	(HPO:0003422)	Vertebral segmentation defect	Very frequent [Orphanet]	95 / 7739
70	(HPO:0002937)	Hemivertebrae		41 / 7739
71	(HPO:0001382)	Joint hypermobility	rare [HPO:skoehler]	231 / 7739
72	(HPO:0100259)	Postaxial polydactyly		85 / 7739
73	(HPO:0001822)	Hallux valgus		70 / 7739
74	(HPO:0005692)	Joint hyperflexibility		20 / 7739
75	(HPO:0004568)	Beaking of vertebral bodies		19 / 7739
76	(HPO:0000772)	Abnormality of the ribs	Very frequent [Orphanet]	146 / 7739
77	(HPO:0001762)	Talipes equinovarus	rare [HPO:skoehler]	309 / 7739
78	(HPO:0000912)	Sprengel anomaly	Frequent [Orphanet]	51 / 7739
79	(HPO:0000892)	Bifid ribs		4 / 7739
80	(HPO:0001561)	Polyhydramnios	Frequent [Orphanet]	191 / 7739
81	(HPO:0001558)	Decreased fetal movement	rare [HPO:skoehler]	74 / 7739
82	(HPO:0004299)	Hernia of the abdominal wall	Frequent [Orphanet]	176 / 7739
83	(HPO:0000023)	Inguinal hernia		181 / 7739
84	(HPO:0011968)	Feeding difficulties		240 / 7739
85	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
86	(HPO:0001520)	Large for gestational age		34 / 7739
87	(HPO:0008897)	Postnatal growth retardation	rare [HPO:skoehler]	113 / 7739
88	(HPO:0002290)	Poliosis		3 / 7739
89	(HPO:0002208)	Coarse hair	Frequent [Orphanet]	58 / 7739
90	(HPO:0001643)	Patent ductus arteriosus	rare [HPO:skoehler]	228 / 7739
91	(HPO:0001631)	Atria septal defect		274 / 7739
92	(HPO:0011648)	Patent ductus arteriosus after birth at term		18 / 7739
93	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
94	(HPO:0001319)	Neonatal hypotonia		101 / 7739
95	(HPO:0010547)	Muscle flaccidity		466 / 7739
96	(HPO:0001252)	Muscular hypotonia		990 / 7739
97	(HPO:0001324)	Muscle weakness		859 / 7739
98	(HPO:0002120)	Cerebral cortical atrophy	Frequent [Orphanet]	187 / 7739
99	(OMIM)	Broad and short nose		4 / 7739
100	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
101	(HPO:0002334)	Abnormality of the cerebellar vermis	Frequent [Orphanet]	137 / 7739
102	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Very frequent [Orphanet]	180 / 7739
103	(OMIM)	Distal ureter dilatation (rare)		1 / 7739
104	(OMIM)	Calcified petroclinoid ligament		1 / 7739
105	(HPO:0002079)	Hypoplasia of the corpus callosum		161 / 7739
106	(OMIM)	Delayed myelinization (in some patients)		2 / 7739
107	(OMIM)	Renal pelvic dilatation (rare)		1 / 7739
108	(HPO:0002119)	Ventriculomegaly	Frequent [Orphanet]	253 / 7739
109	(OMIM)	Large septum pellucidum		1 / 7739
110	(OMIM)	Anterior subluxation of the shoulders (rare)		1 / 7739
111	(OMIM)	Affable behavior		1 / 7739
112	(OMIM)	Cervical vertebrae clefting		1 / 7739
113	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
114	(OMIM)	Cervical and thoracic vertebrae fusion		1 / 7739
115	(OMIM)	Valgus feet (rare)		1 / 7739
116	(OMIM)	Hypodensity of gray matter (rare)		1 / 7739
117	(OMIM)	Bilateral optic nerve colobomas (rare)		1 / 7739
118	(OMIM)	Elevated scapulae		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Pascual-Castroviejo et al. (1975) described a multiple congenital anomaly/mental retardation syndrome in 3 unrelated children. The features included facial dysmorphism, multiple malformations of the vertebrae and ribs, and mental retardation. Cerebrofaciothoracic dysplasia was the suggested designation. In 2 ... Pascual-Castroviejo et al. (1975) described a multiple congenital anomaly/mental retardation syndrome in 3 unrelated children. The features included facial dysmorphism, multiple malformations of the vertebrae and ribs, and mental retardation. Cerebrofaciothoracic dysplasia was the suggested designation. In 2 of the families, the parents were consanguineous. Philip et al. (1992) described 2 brothers, born to second-cousin parents from Morocco, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behavior. In the second sib reported by Philip et al. (1992), the diagnosis was suspected on ultrasound scan during pregnancy, indicating that prenatal diagnosis of this condition is possible. The costovertebral abnormalities were similar to those of spondylocostal dysplasia (277300); mental retardation is not a feature of that condition, however. Guion-Almeida et al. (1996) reported a case. A male infant showed large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Cleft lip/palate was also present. Kanaka-Gantenbein et al. (2004) reported a brother and sister, born to nonconsanguineous parents, with cerebrofaciothoracic dysplasia. Both had severe intrauterine and postnatal growth failure, costovertebral abnormalities (hemivertebrae and fused ribs), and mental retardation. The sister, 20 years old at the time of report, had had repeated surgery for rectovaginal fistula. The brother, 8 years old at the time of report, had cleft palate. He, but not his sister, showed growth hormone deficiency. Cilliers et al. (2007) reported an Asian boy and a Turkish girl, both born to consanguineous parents, with cerebrofaciothoracic dysplasia. In addition to typical features of the disorder, the boy had bilateral colobomas of the optic nerve, a left-sided divergent strabismus, ptosis, small conical teeth, severe left-sided talipes, valgus deformity of both feet, overlapping of the toes, hypermobile joints (especially in his hands), and anterior subluxation of the shoulders. He also had right-sided renal pelvic dilation and dilated right distal ureter, and his echocardiogram showed a small patent ductus arteriosus.

Symptoms & Signs

	Field	Query
	Disease
	Symptom