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Hypertelorism, Teebi type

General Information (adopted from Orphanet):

Synonyms, Signs:	Craniofrontonasal dysplasia, Teebi type Teebi hypertelorism syndrome Teebi syndrome brachycephalofrontonasal dysplasia
Number of Symptoms	49
OrphanetNr:	1519
OMIM Id:	145420
ICD-10:	Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	20 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Frontonasal dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
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:0000049)	Shawl scrotum	Frequent [Orphanet]	31 / 7739
2	(HPO:0010458)	Female pseudohermaphroditism	Occasional [Orphanet]	17 / 7739
3	(HPO:0100542)	Abnormal localization of kidney	Occasional [Orphanet]	64 / 7739
4	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
5	(HPO:0000695)	Natal tooth	Occasional [Orphanet]	42 / 7739
6	(HPO:0010751)	Chin dimple	Occasional [Orphanet]	16 / 7739
7	(HPO:0002007)	Frontal bossing	Frequent [Orphanet]	366 / 7739
8	(HPO:0000233)	Thin vermilion border	Very frequent [Orphanet]	124 / 7739
9	(HPO:0000232)	Everted lower lip vermilion	Frequent [Orphanet]	90 / 7739
10	(HPO:0009796)	Branchial cyst	Frequent [Orphanet]	32 / 7739
11	(HPO:0005280)	Depressed nasal bridge		381 / 7739
12	(HPO:0011220)	Prominent forehead		137 / 7739
13	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
14	(HPO:0000311)	Round face	Frequent [Orphanet]	104 / 7739
15	(HPO:0000445)	Wide nose	Frequent [Orphanet]	190 / 7739
16	(HPO:0000349)	Widow's peak	Frequent [Orphanet]	26 / 7739
17	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
18	(HPO:0000431)	Wide nasal bridge		290 / 7739
19	(HPO:0002553)	Highly arched eyebrow	Very frequent [Orphanet]	92 / 7739
20	(HPO:0000248)	Brachycephaly	Occasional [Orphanet]	222 / 7739
21	(HPO:0000494)	Downslanted palpebral fissures	Frequent [Orphanet]	328 / 7739
22	(HPO:0000426)	Prominent nasal bridge	Very frequent [Orphanet]	121 / 7739
23	(HPO:0003196)	Short nose	Frequent [Orphanet]	264 / 7739
24	(HPO:0000574)	Thick eyebrow	Very frequent [Orphanet]	96 / 7739
25	(HPO:0000520)	Proptosis	Occasional [Orphanet]	192 / 7739
26	(HPO:0000202)	Oral cleft	Occasional [Orphanet]	120 / 7739
27	(HPO:0000508)	Ptosis	Frequent [Orphanet]	459 / 7739
28	(HPO:0000486)	Strabismus	Occasional [Orphanet]	576 / 7739
29	(HPO:0011039)	Abnormality of the helix	Frequent [Orphanet]	33 / 7739
30	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
31	(HPO:0006101)	Finger syndactyly	Frequent [Orphanet]	198 / 7739
32	(HPO:0000767)	Pectus excavatum	Occasional [Orphanet]	244 / 7739
33	(HPO:0001169)	Broad palm		43 / 7739
34	(HPO:0004209)	Clinodactyly of the 5th finger	Frequent [Orphanet]	288 / 7739
35	(HPO:0006494)	Aplasia/Hypoplasia involving bones of the feet	Frequent [Orphanet]	69 / 7739
36	(HPO:0004279)	Short palm	Frequent [Orphanet]	323 / 7739
37	(HPO:0001537)	Umbilical hernia	Frequent [Orphanet]	206 / 7739
38	(HPO:0001539)	Omphalocele	Occasional [Orphanet]	102 / 7739
39	(HPO:0011675)	Arrhythmia	Occasional [Orphanet]	226 / 7739
40	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
41	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
42	(HPO:0001631)	Atria septal defect	Occasional [Orphanet]	274 / 7739
43	(HPO:0001643)	Patent ductus arteriosus	Occasional [Orphanet]	228 / 7739
44	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
45	(OMIM)	Mild antimongoloid slant		1 / 7739
46	(OMIM)	Broad and depressed nasal bridge		1 / 7739
47	(OMIM)	Interdigital webbing, mild		2 / 7739
48	(OMIM)	Slightly small, broad hands		1 / 7739
49	(OMIM)	Heavy and broad eyebrows		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Teebi (1987) described a 4-generation Arab family in which many individuals showed striking hypertelorism with some other features suggesting craniofrontonasal syndrome (CFNS; 304110) or Aarskog syndrome (305400). Findings differentiating this disorder from the former condition were a nasal ... Teebi (1987) described a 4-generation Arab family in which many individuals showed striking hypertelorism with some other features suggesting craniofrontonasal syndrome (CFNS; 304110) or Aarskog syndrome (305400). Findings differentiating this disorder from the former condition were a nasal tip that was normal or at the most only slightly broad and no evidence of craniosynostosis or abnormalities of the fingernails. Findings differentiating it from the latter condition were more severe hypertelorism and absence of short stature and joint laxity. It was further distinguished from both CFNS and Aarskog syndrome by the fact that males and females were equally affected and the sex ratio was almost 1:1. In addition to hypertelorism, the disorder described by Teebi (1987) was characterized by prominent forehead, mild antimongoloid slant, long palpebral fissures, heavy and broad eyebrows, widow's peak (194000), broad and depressed nasal bridge, short nose, slightly small, broad hands, mild interdigital webbing, and shawl scrotum. There were several instances of male-to-male transmission. Morris et al. (1987) described a 4-generation family in which 6 persons had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Cleft lip and palate were present in 1, Sprengel anomaly in 2, pseudarthrosis of the clavicle in 2, pectus excavatum in 3, diaphragmatic hernia in 2, broad first toe in 4, longitudinal grooves of the nails in 5, shawl scrotum in 2 of 3 males, 1 of whom had first-degree hypospadias, and mild retardation in 1. Morris et al. (1987) concluded that the family had craniofrontonasal syndrome, but McGaughran et al. (2002) suggested that the family may instead have had Teebi syndrome, since the affected males demonstrated additional anomalies not usually observed in CFNS. Stratton (1991) described a US family with affected persons in 4 generations with instances of male-to-male transmission. Tsukahara et al. (1995) described Teebi hypertelorism syndrome in a 6-year-old girl who also had ventricular septal defect, lipoma of the occipital area, and hypoplastic left cerebellar hemisphere. The father was thought to have mild manifestations of the condition. Tsai et al. (2002) reported a family in which the mother and her daughter and son had Teebi hypertelorism syndrome with some previously unrecognized manifestations. The clinical findings included a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. The daughter had bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son had less striking facial features but was born with a small omphalocele, large atrial septal defect secundum, patent ductus arteriosus (see 607411), bilateral cryptorchidism, right hydronephrosis, and a cystic left kidney. Koenig (2003) reported a girl with Teebi syndrome, aged 2 years and 5 months, who had a prominent forehead, hypertelorism, mild exophthalmos, long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, and thin upper lip with everted lower lip. She also had a small chin, low-set ears with preauricular fistulas, short neck, and mild pectus excavatum. Clinodactyly of the fifth fingers with mild radial deviation of the distal phalanges of the middle fingers and mild pes adductus were present. Natal teeth and umbilical hernia had been observed. Ultrasound examination detected an ectopic right kidney. Psychomotor development was normal. Her mother and her grandmother had similar features, supporting autosomal dominant inheritance. Han et al. (2006) reported a 4.5-year-old girl with clinical features of Teebi hypertelorism syndrome who required a pacemaker for third-degree atrioventricular block, a finding not reported in 36 patients previously diagnosed with Teebi hypertelorism syndrome. The authors reviewed data from 18 well-documented cases and noted a characteristic facial appearance with hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep philtrum, and a prominent forehead. Structural cardiac defects were present in 5 patients.

Symptoms & Signs

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