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Oculocerebral hypopigmentation syndrome, Cross type

General Information (adopted from Orphanet):

Synonyms, Signs:	KRAMER SYNDROME cross syndrome
Number of Symptoms	50
OrphanetNr:	2719
OMIM Id:	257800
ICD-10:	E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
-Rare developmental defect during embryogenesis
-Rare odontologic disease
Syndromic oculocutaneous albinism
-Rare eye disease
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
2	(HPO:0000071)	Ureteral stenosis	Occasional [Orphanet]	9 / 7739
3	(HPO:0000072)	Hydroureter	Occasional [Orphanet]	146 / 7739
4	(HPO:0000691)	Microdontia	Frequent [Orphanet]	104 / 7739
5	(HPO:0002705)	High, narrow palate	Very frequent [Orphanet]	308 / 7739
6	(HPO:0003196)	Short nose	Frequent [Orphanet]	264 / 7739
7	(HPO:0000160)	Narrow mouth	Frequent [Orphanet]	188 / 7739
8	(HPO:0005280)	Depressed nasal bridge	Frequent [Orphanet]	381 / 7739
9	(HPO:0000492)	Abnormality of the eyelid	Frequent [Orphanet]	41 / 7739
10	(HPO:0000268)	Dolichocephaly	Frequent [Orphanet]	144 / 7739
11	(HPO:0000463)	Anteverted nares	Frequent [Orphanet]	305 / 7739
12	(HPO:0001305)	Dandy-Walker malformation	Occasional [Orphanet]	79 / 7739
13	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
14	(HPO:0001107)	Ocular albinism	Occasional [Orphanet]	40 / 7739
15	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Frequent [Orphanet]	142 / 7739
16	(HPO:0000518)	Cataract	Frequent [Orphanet]	454 / 7739
17	(HPO:0000481)	Abnormality of the cornea	Frequent [Orphanet]	124 / 7739
18	(HPO:0000478)	Abnormality of the eye	Frequent [Orphanet]	126 / 7739
19	(HPO:0000545)	Myopia	Occasional [Orphanet]	286 / 7739
20	(HPO:0000639)	Nystagmus	Frequent [Orphanet]	555 / 7739
21	(HPO:0011039)	Abnormality of the helix	Occasional [Orphanet]	33 / 7739
22	(HPO:0000407)	Sensorineural hearing impairment	Occasional [Orphanet]	524 / 7739
23	(HPO:0002353)	EEG abnormality	Frequent [Orphanet]	188 / 7739
24	(HPO:0001249)	Intellectual disability		1089 / 7739
25	(HPO:0001347)	Hyperreflexia	Frequent [Orphanet]	363 / 7739
26	(HPO:0001276)	Hypertonia	Frequent [Orphanet]	317 / 7739
27	(HPO:0100022)	Abnormality of movement	Frequent [Orphanet]	129 / 7739
28	(HPO:0001257)	Spasticity		251 / 7739
29	(HPO:0007256)	Abnormal pyramidal signs	Frequent [Orphanet]	116 / 7739
30	(HPO:0004305)	Involuntary movements	Occasional [Orphanet]	50 / 7739
31	(HPO:0002071)	Abnormality of extrapyramidal motor function	Frequent [Orphanet]	76 / 7739
32	(HPO:0002066)	Gait ataxia	Frequent [Orphanet]	327 / 7739
33	(HPO:0002305)	Athetosis		31 / 7739
34	(HPO:0001387)	Joint stiffness	Frequent [Orphanet]	322 / 7739
35	(HPO:0001172)	Abnormality of the thumb	Occasional [Orphanet]	103 / 7739
36	(HPO:0011302)	Long palm	Frequent [Orphanet]	70 / 7739
37	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
38	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
39	(HPO:0001510)	Growth delay		295 / 7739
40	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
41	(HPO:0000963)	Thin skin	Very frequent [Orphanet]	96 / 7739
42	(HPO:0002218)	Silver-gray hair		6 / 7739
43	(HPO:0005599)	Hypopigmentation of hair	Occasional [Orphanet]	38 / 7739
44	(HPO:0001010)	Hypopigmentation of the skin		46 / 7739
45	(HPO:0001903)	Anemia	Frequent [Orphanet]	289 / 7739
46	(HPO:0005561)	Abnormality of bone marrow cell morphology	Occasional [Orphanet]	11 / 7739
47	(HPO:0001608)	Abnormality of the voice	Occasional [Orphanet]	126 / 7739
48	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
49	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
50	(OMIM)	Ocular anomalies		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Cross et al. (1967) described a family in which 4 sibs (2 male, 2 female) had cutaneous hypopigmentation, severe ocular anomalies, and cerebral defect manifested by spasticity, mental and physical retardation, and athetoid movements. The syndrome has often ... Cross et al. (1967) described a family in which 4 sibs (2 male, 2 female) had cutaneous hypopigmentation, severe ocular anomalies, and cerebral defect manifested by spasticity, mental and physical retardation, and athetoid movements. The syndrome has often been referred to as Cross syndrome, but it might also be called Kramer syndrome after the family in which it was observed. Fryns et al. (1988) described 2 affected sibs, the offspring of second-cousin parents. The hair had a silver-gray color which was present from birth. Curiously, the same silver-gray hair was present from birth in a third, otherwise normal sib. Other reported cases include those of Passarge and Fuchs-Recke (1975), Preus et al. (1983), and Patton et al. (1987), but those in the last 2 reports may represent a separate entity (see 257790). Courtens et al. (1989) described a case born to gypsy parents who denied consanguinity. Lerone et al. (1992) reported a sporadic case and expanded the clinical picture to include developmental defects such as cystic malformation of the posterior fossa of the Dandy-Walker type. White et al. (1993) described this disorder in a 20-year-old man who also had Bartter syndrome (see 241200), apparently as a coincidental association. De Jong and Fryns (1991) reported 2 female sibs, born of consanguineous so-called 'Cape Coloured' (mixed race) parents, who had microcephaly, brown eyes with blue sclerae, gray hair of the scalp, eyebrows, and eyelashes that was an admixture of black and white hair, hypopigmented cafe-au-lait macules, psychomotor retardation, ataxia, and increased deep tendon reflexes. CT scan in 1 sib showed cerebellar hypoplasia with a wide fourth ventricle. Tezcan et al. (1997) presented another case, the offspring of first-cousin parents. In addition to the ocular and cutaneous hypopigmentation with neurologic manifestations, the patient showed urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart, vacuolization of myeloid series cells, and distinct ultrastructural features of the skin.

Symptoms & Signs

	Field	Query
	Disease
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