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Monosomy 9p

General Information (adopted from Orphanet):

Synonyms, Signs:	Alfi syndrome MONOSOMY 9p SYNDROME 9p deletion syndrome 9p- syndrome
Number of Symptoms	91
OrphanetNr:	261112
OMIM Id:	158170
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance Sporadic [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Partial deletion of the short arm of chromosome 9
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000047)	Hypospadias	Frequent [Orphanet]	250 / 7739
2	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
3	(HPO:0000054)	Micropenis		257 / 7739
4	(HPO:0000072)	Hydroureter	Occasional [Orphanet]	146 / 7739
5	(HPO:0000062)	Ambiguous genitalia	Frequent [Orphanet]	74 / 7739
6	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
7	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
8	(HPO:0000347)	Micrognathia		426 / 7739
9	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
10	(HPO:0003196)	Short nose	Frequent [Orphanet]	264 / 7739
11	(HPO:0000160)	Narrow mouth	Frequent [Orphanet]	188 / 7739
12	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
13	(HPO:0002705)	High, narrow palate	Very frequent [Orphanet]	308 / 7739
14	(HPO:0000248)	Brachycephaly	Very frequent [Orphanet]	222 / 7739
15	(HPO:0001362)	Calvarial skull defect	Occasional [Orphanet]	22 / 7739
16	(HPO:0000164)	Abnormality of the teeth	Frequent [Orphanet]	291 / 7739
17	(HPO:0000219)	Thin upper lip vermilion		112 / 7739
18	(HPO:0000465)	Webbed neck	Very frequent [Orphanet]	81 / 7739
19	(HPO:0000431)	Wide nasal bridge		290 / 7739
20	(HPO:0000453)	Choanal atresia	Occasional [Orphanet]	76 / 7739
21	(HPO:0000470)	Short neck	Very frequent [Orphanet]	345 / 7739
22	(HPO:0002162)	Low posterior hairline	Very frequent [Orphanet]	88 / 7739
23	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
24	(HPO:0000581)	Blepharophimosis	Very frequent [Orphanet]	197 / 7739
25	(HPO:0000252)	Microcephaly	Frequent [Orphanet]	832 / 7739
26	(HPO:0000664)	Synophrys	Frequent [Orphanet]	112 / 7739
27	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
28	(HPO:0000494)	Downslanted palpebral fissures	Occasional [Orphanet]	328 / 7739
29	(HPO:0000582)	Upslanted palpebral fissure	Frequent [Orphanet]	185 / 7739
30	(HPO:0002553)	Highly arched eyebrow	Frequent [Orphanet]	92 / 7739
31	(HPO:0011800)	Midface retrusion	Very frequent [Orphanet]	221 / 7739
32	(HPO:0000272)	Malar flattening		277 / 7739
33	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
34	(HPO:0000243)	Trigonocephaly	Very frequent [Orphanet]	40 / 7739
35	(HPO:0000574)	Thick eyebrow	Frequent [Orphanet]	96 / 7739
36	(HPO:0000639)	Nystagmus	Frequent [Orphanet]	555 / 7739
37	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
38	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Occasional [Orphanet]	142 / 7739
39	(HPO:0000545)	Myopia		286 / 7739
40	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
41	(HPO:0009738)	Abnormality of the antihelix	Very frequent [Orphanet]	37 / 7739
42	(HPO:0000377)	Abnormality of the pinna		111 / 7739
43	(HPO:0000369)	Low-set ears		372 / 7739
44	(HPO:0009906)	Aplasia/Hypoplasia of the earlobes	Very frequent [Orphanet]	41 / 7739
45	(HPO:0000372)	Abnormality of the auditory canal	Occasional [Orphanet]	49 / 7739
46	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
47	(HPO:0001263)	Global developmental delay		853 / 7739
48	(HPO:0001249)	Intellectual disability		1089 / 7739
49	(HPO:0000750)	Delayed speech and language development		197 / 7739
50	(HPO:0001276)	Hypertonia	Frequent [Orphanet]	317 / 7739
51	(HPO:0001250)	Seizures	Frequent [Orphanet]	1245 / 7739
52	(HPO:0006610)	Wide intermamillary distance		46 / 7739
53	(HPO:0004404)	Abnormality of the nipple	Very frequent [Orphanet]	54 / 7739
54	(HPO:0001387)	Joint stiffness	Frequent [Orphanet]	322 / 7739
55	(HPO:0005882)	Dermatoglyphic variants		1 / 7739
56	(HPO:0001162)	Postaxial hand polydactyly	Occasional [Orphanet]	119 / 7739
57	(HPO:0000772)	Abnormality of the ribs	Occasional [Orphanet]	146 / 7739
58	(HPO:0001182)	Tapered finger		93 / 7739
59	(HPO:0009623)	Proximal placement of thumb	Very frequent [Orphanet]	50 / 7739
60	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
61	(HPO:0001763)	Pes planus		176 / 7739
62	(HPO:0003468)	Abnormality of the vertebrae	Occasional [Orphanet]	77 / 7739
63	(HPO:0001850)	Abnormality of the tarsal bones	Frequent [Orphanet]	40 / 7739
64	(HPO:0000954)	Single transverse palmar crease	Occasional [Orphanet]	162 / 7739
65	(HPO:0000775)	Abnormality of the diaphragm	Occasional [Orphanet]	62 / 7739
66	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
67	(HPO:0000023)	Inguinal hernia		181 / 7739
68	(HPO:0001539)	Omphalocele		102 / 7739
69	(HPO:0001795)	Hyperconvex nail		13 / 7739
70	(HPO:0007477)	Abnormal dermatoglyphics	Very frequent [Orphanet]	72 / 7739
71	(HPO:0002286)	Fair hair		20 / 7739
72	(HPO:0000980)	Pallor		52 / 7739
73	(HPO:0001231)	Abnormality of the fingernails	Very frequent [Orphanet]	116 / 7739
74	(HPO:0001631)	Atria septal defect		274 / 7739
75	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
76	(HPO:0001629)	Ventricular septal defect		316 / 7739
77	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
78	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
79	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
80	(HPO:0010547)	Muscle flaccidity		466 / 7739
81	(HPO:0001324)	Muscle weakness		859 / 7739
82	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
83	(OMIM)	Congenital cardiac malformations		1 / 7739
84	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
85	(OMIM)	Small palpebral fissures		6 / 7739
86	(HPO:0030148)	Heart murmur		29 / 7739
87	(OMIM)	Brown or blond hair		1 / 7739
88	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Occasional [Orphanet]	180 / 7739
89	(HPO:0003745)	Sporadic		131 / 7739
90	(OMIM)	Heart murmurs		1 / 7739
91	(HPO:0045025)	Narrow palpebral fissure		8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Alfi et al. (1973) reported 2 unrelated patients with partial deletion of the short arm of chromosome 9. Common clinical features included trigonocephaly, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, and ... Alfi et al. (1973) reported 2 unrelated patients with partial deletion of the short arm of chromosome 9. Common clinical features included trigonocephaly, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, and hypertonia. One had a patent ductus arteriosus, and the other had ventricular septal defect. One child had an omphalocele, a left diaphragmatic hernia, and inguinal hernias. Both infants had delayed psychomotor development. Cytogenetic studies on family members indicated that the mother and several maternal relatives of the first patient and the father of the second patient carried a similar deletion of 9p. Hoo et al. (1982) observed a kindred with several cases of mental retardation attributable to deletion of the terminal band of 9p (p24). Chromosomal translocation was sought because of the high frequency of mental retardation in the family. High resolution cytogenetics showed a tiny translocation between 9p and 20p in presumptively balanced translocation carriers. The clinical features fitted well with the previously described 9p- syndrome based on patients with more extensive deletions. In addition to mental retardation, these clinical features were delayed motor development, trigonocephaly, wide nasal bridge, large upper lip, high-arched palate, long fingers and toes due to elongation of the second phalanx, flat feet, and dermatoglyphic peculiarities. Shashi et al. (1994) described choanal atresia in a patient with the 9p- syndrome; Huret et al. (1988) had earlier reported the association in a single case. Swinkels et al. (2008) reported 13 presumably unrelated Dutch patients with 9p syndrome. Ages ranged from 3 months to 42 years; there were 8 females and 5 males. The most common clinical features, occurring in more than 50% of patients, included developmental and psychomotor delay, trigonocephaly, flat midface, short palpebral fissures, highly arched eyebrows, low-set ears, short flat nose with anteverted nostrils, thin upper lip, long philtrum, high palate, micrognathia, short neck, enlarged internipple distance, tapering fingers, flat feet, and hypotonia. Speech was delayed, but improved with age. Seven of 13 patients had cardiac murmurs presumed to be due to patent ductus arteriosus, ventricular septal defect, atrial septal defect, tricuspid valve insufficiency, and coarctation of the aorta. Three of 5 males had hypospadias and micropenis. All patients had a normal height.

Symptoms & Signs

	Field	Query
	Disease
	Symptom