Welcome to PhenoDis

Autosomal recessive facio-digito-genital syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	KUWAIT TYPE FACIODIGITOGENITAL SYNDROME Teebi-Naguib-Alawadi syndrome Facio-digito-genital syndrome, Kuwait type aarskog-like syndrome
Number of Symptoms	71
OrphanetNr:	1974
OMIM Id:	227330
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic malformation syndrome with short stature
-Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Malformation syndrome with short stature
-Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
Syndromic urogenital tract malformation
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare urogenital disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000028)	Cryptorchidism		347 / 7739
2	(HPO:0000049)	Shawl scrotum	Very frequent [Orphanet]	31 / 7739
3	(HPO:0002705)	High, narrow palate	Very frequent [Orphanet]	308 / 7739
4	(HPO:0000218)	High palate		356 / 7739
5	(HPO:0000464)	Abnormality of the neck	Very frequent [Orphanet]	31 / 7739
6	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
7	(HPO:0002007)	Frontal bossing	Frequent [Orphanet]	366 / 7739
8	(HPO:0000582)	Upslanted palpebral fissure	Occasional [Orphanet]	185 / 7739
9	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
10	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
11	(HPO:0000349)	Widow's peak	Occasional [Orphanet]	26 / 7739
12	(HPO:0000189)	Narrow palate		45 / 7739
13	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
14	(HPO:0000232)	Everted lower lip vermilion	Very frequent [Orphanet]	90 / 7739
15	(HPO:0000248)	Brachycephaly	Frequent [Orphanet]	222 / 7739
16	(HPO:0000154)	Wide mouth	Very frequent [Orphanet]	137 / 7739
17	(HPO:0000506)	Telecanthus	Very frequent [Orphanet]	156 / 7739
18	(HPO:0000325)	Triangular face	Very frequent [Orphanet]	91 / 7739
19	(HPO:0000276)	Long face	Very frequent [Orphanet]	109 / 7739
20	(HPO:0000164)	Abnormality of the teeth		291 / 7739
21	(HPO:0000472)	Long neck		8 / 7739
22	(HPO:0002002)	Deep philtrum	Very frequent [Orphanet]	42 / 7739
23	(HPO:0000689)	Dental malocclusion	Frequent [Orphanet]	114 / 7739
24	(HPO:0000494)	Downslanted palpebral fissures		328 / 7739
25	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
26	(HPO:0000211)	Trismus	rare [HPO:skoehler]	9 / 7739
27	(HPO:0000637)	Long palpebral fissure		21 / 7739
28	(HPO:0000426)	Prominent nasal bridge	Frequent [Orphanet]	121 / 7739
29	(HPO:0008551)	Microtia		98 / 7739
30	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
31	(HPO:0008544)	Abnormally folded helix	Frequent [Orphanet]	24 / 7739
32	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
33	(HPO:0000365)	Hearing impairment	rare [HPO:skoehler]	539 / 7739
34	(HPO:0001249)	Intellectual disability	rare [HPO:skoehler]	1089 / 7739
35	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
36	(HPO:0000767)	Pectus excavatum		244 / 7739
37	(HPO:0004209)	Clinodactyly of the 5th finger	Very frequent [Orphanet]	288 / 7739
38	(HPO:0001169)	Broad palm		43 / 7739
39	(HPO:0200021)	Down-sloping shoulders		18 / 7739
40	(HPO:0005639)	Hyperextensible hand joints		3 / 7739
41	(HPO:0000774)	Narrow chest	Very frequent [Orphanet]	167 / 7739
42	(HPO:0012385)	Camptodactyly		113 / 7739
43	(HPO:0001840)	Metatarsus adductus		49 / 7739
44	(HPO:0006101)	Finger syndactyly	Very frequent [Orphanet]	198 / 7739
45	(HPO:0001547)	Abnormality of the rib cage		25 / 7739
46	(HPO:0001773)	Short foot	Frequent [Orphanet]	86 / 7739
47	(HPO:0001159)	Syndactyly		140 / 7739
48	(HPO:0002948)	Vertebral fusion	rare [HPO:skoehler]	28 / 7739
49	(HPO:0001382)	Joint hypermobility	Very frequent [Orphanet]	231 / 7739
50	(HPO:0000023)	Inguinal hernia		181 / 7739
51	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
52	(HPO:0003508)	Proportionate short stature		12 / 7739
53	(HPO:0005599)	Hypopigmentation of hair	Occasional [Orphanet]	38 / 7739
54	(HPO:0002208)	Coarse hair	Occasional [Orphanet]	58 / 7739
55	(HPO:0000974)	Hyperextensible skin	Occasional [Orphanet]	59 / 7739
56	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
57	(OMIM)	Short, stubby nose		1 / 7739
58	(OMIM)	Coarse, dry scalp hair		2 / 7739
59	(OMIM)	Bulbous toes		1 / 7739
60	(OMIM)	Long, deep philtrum		1 / 7739
61	(OMIM)	Mild syndactyly		4 / 7739
62	(OMIM)	Normal intelligence		81 / 7739
63	(OMIM)	Central facial nerve paralysis (rare)		1 / 7739
64	(OMIM)	Hypopigmented scalp hair		1 / 7739
65	(OMIM)	Interdigital webbing		1 / 7739
66	(OMIM)	Pouting lower lip		1 / 7739
67	(OMIM)	Small, broad hands		1 / 7739
68	(HPO:0012905)	Euryblepharon	Very frequent [Orphanet]	12 / 7739
69	(OMIM)	Frequent urination (rare)		1 / 7739
70	(OMIM)	Abnormal auricles		4 / 7739
71	(OMIM)	Absent 12th rib (rare)		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Teebi et al. (1988) described an Arabic family with normal consanguineous parents and 5 children (3 males and 2 females) with some features of Aarskog syndrome (see 305400) in addition to unusual hair changes. The hair was coarse, ... Teebi et al. (1988) described an Arabic family with normal consanguineous parents and 5 children (3 males and 2 females) with some features of Aarskog syndrome (see 305400) in addition to unusual hair changes. The hair was coarse, dry, and relatively hypopigmented with widow's peak trait (194000). The hands were small and broad with mild interdigital webbing, fifth finger clinodactyly, and hyperextensible joints. The feet were small with metatarsus varus and stubby toes. Hypertelorism and, in the males, shawl-like scrotum completed the similarities to Aarskog syndrome. In the same Kuwaiti Bedouin tribe from which the first family came, Teebi and Al Awadi (1991) observed another sibship with 2 affected males who were double first cousins to the first reported cases. Moreover, they observed 3 other distantly related sibships with 9 affected members who all could be traced to a common ancestor. The consistent features were a triangular or elongated face, telecanthus or mild hypertelorism, wide palpebral fissures without ptosis, short stubby nose with anteverted nostrils, high arched and narrow palate, long, deep philtrum, wide mouth with protruding lower lip, posteriorly rotated ears with minor ear anomalies, long neck with sloping shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum. Short stature was confirmed in 10 cases, while the heights of the other 6 were between the 10th and 25th percentile for age. None of the 16 cases showed physical disability or mental retardation. Xu et al. (2010) reported a Chinese family in which 10 of 29 members had a disorder suggestive of Aarskog syndrome but with different limb anomalies and additional features. Characteristic manifestations of Aarskog syndrome included short stature, hypertelorism, long philtrum, and shawl scrotum, and less common manifestations of the syndrome included widow's peak, high-arched palate, abnormal teeth, retarded bone age, 4-finger flexion creases, adducted thumbs, vertebral malformations, pectus excavatum, broad feet with bulbous toes, phimosis, cryptorchidism, and mental retardation. Hyperextension of the proximal interphalangeal joints, one of the most characteristic features in the hands in Aarskog syndrome, was absent, but fifth finger clinodactyly, broad hands with interdigital webbing, and hyperextensible elbows were present. Additional features included central facial paralysis, trismus, hearing impairment, congenital absent 12th ribs, and frequent micturition.

Symptoms & Signs

	Field	Query
	Disease
	Symptom