Welcome to PhenoDis

Galloway-Mowat syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	GALLOWAY-MOWAT SYNDROME NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME NEPHROSIS-MICROCEPHALY SYNDROME Nephrosis - neuronal dysmigration syndrome Microcephaly - hiatus hernia - nephrotic syndrome galloway syndrome
Number of Symptoms	88
OrphanetNr:	2065
OMIM Id:	251300
ICD-10:	Q04.3
UMLs:	C0795949
MeSH:	C537548
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	40 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy Childhood [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
Primary glomerular disease
-Rare genetic disease
-Rare renal disease
Rare genetic intellectual deficit with developmental anomaly
-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:0000093)	Proteinuria	Very frequent [Orphanet]	169 / 7739
2	(HPO:0000100)	Nephrotic syndrome	Very frequent [Orphanet]	83 / 7739
3	(HPO:0000097)	Focal segmental glomerulosclerosis		37 / 7739
4	(HPO:0001967)	Diffuse mesangial sclerosis		11 / 7739
5	(HPO:0000112)	Nephropathy	Very frequent [Orphanet]	92 / 7739
6	(HPO:0000154)	Wide mouth		137 / 7739
7	(HPO:0000316)	Hypertelorism	Occasional [Orphanet]	644 / 7739
8	(HPO:0000164)	Abnormality of the teeth	Occasional [Orphanet]	291 / 7739
9	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
10	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
11	(HPO:0000448)	Prominent nose		56 / 7739
12	(HPO:0000418)	Narrow nasal ridge		15 / 7739
13	(HPO:0000218)	High palate		356 / 7739
14	(HPO:0011800)	Midface retrusion		221 / 7739
15	(HPO:0005469)	Flat occiput		30 / 7739
16	(HPO:0000568)	Microphthalmia		183 / 7739
17	(HPO:0001305)	Dandy-Walker malformation	rare [HPO:skoehler]	79 / 7739
18	(HPO:0000601)	Hypotelorism	Occasional [Orphanet]	83 / 7739
19	(HPO:0000347)	Micrognathia		426 / 7739
20	(HPO:0000286)	Epicanthus		371 / 7739
21	(HPO:0000340)	Sloping forehead		86 / 7739
22	(HPO:0000518)	Cataract		454 / 7739
23	(HPO:0000486)	Strabismus		576 / 7739
24	(HPO:0000508)	Ptosis		459 / 7739
25	(HPO:0000648)	Optic atrophy		238 / 7739
26	(HPO:0007957)	Corneal opacity		84 / 7739
27	(HPO:0007759)	Opacification of the corneal stroma		77 / 7739
28	(HPO:0007676)	Hypoplasia of the iris		22 / 7739
29	(HPO:0000639)	Nystagmus		555 / 7739
30	(HPO:0000369)	Low-set ears		372 / 7739
31	(HPO:0000400)	Macrotia		108 / 7739
32	(HPO:0100720)	Hypoplasia of the ear cartilage	Very frequent [Orphanet]	12 / 7739
33	(HPO:0002353)	EEG abnormality	Frequent [Orphanet]	188 / 7739
34	(HPO:0004374)	Hemiplegia/hemiparesis	Occasional [Orphanet]	158 / 7739
35	(HPO:0001332)	Dystonia	rare [HPO:skoehler]	197 / 7739
36	(HPO:0002510)	Spastic tetraplegia	rare [HPO:skoehler]	54 / 7739
37	(HPO:0001263)	Global developmental delay		853 / 7739
38	(HPO:0001251)	Ataxia	rare [HPO:skoehler]	413 / 7739
39	(HPO:0001250)	Seizures	Frequent [Orphanet]	1245 / 7739
40	(HPO:0001249)	Intellectual disability		1089 / 7739
41	(HPO:0001276)	Hypertonia	Occasional [Orphanet]	317 / 7739
42	(HPO:0001347)	Hyperreflexia		363 / 7739
43	(HPO:0001761)	Pes cavus		225 / 7739
44	(HPO:0001188)	Hand clenching		9 / 7739
45	(HPO:0001371)	Flexion contracture		220 / 7739
46	(HPO:0005108)	Abnormality of the intervertebral disk	Occasional [Orphanet]	12 / 7739
47	(HPO:0009473)	Joint contracture of the hand		84 / 7739
48	(HPO:0001762)	Talipes equinovarus		309 / 7739
49	(HPO:0012385)	Camptodactyly		113 / 7739
50	(HPO:0001238)	Slender finger		23 / 7739
51	(HPO:0001172)	Abnormality of the thumb	Occasional [Orphanet]	103 / 7739
52	(HPO:0100490)	Camptodactyly of finger	Occasional [Orphanet]	212 / 7739
53	(HPO:0001622)	Premature birth	Frequent [Orphanet]	100 / 7739
54	(HPO:0001562)	Oligohydramnios		75 / 7739
55	(HPO:0011968)	Feeding difficulties	rare [HPO:skoehler]	240 / 7739
56	(HPO:0002571)	Achalasia	Frequent [Orphanet]	19 / 7739
57	(HPO:0002036)	Hiatus hernia		24 / 7739
58	(HPO:0001511)	Intrauterine growth retardation	Frequent [Orphanet]	358 / 7739
59	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
60	(HPO:0001518)	Small for gestational age		107 / 7739
61	(HPO:0001792)	Small nail		55 / 7739
62	(HPO:0001010)	Hypopigmentation of the skin		46 / 7739
63	(HPO:0003073)	Hypoalbuminemia		40 / 7739
64	(HPO:0010978)	Abnormality of immune system physiology	Occasional [Orphanet]	148 / 7739
65	(HPO:0001324)	Muscle weakness		859 / 7739
66	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
67	(HPO:0010547)	Muscle flaccidity		466 / 7739
68	(HPO:0001252)	Muscular hypotonia	Occasional [Orphanet]	990 / 7739
69	(HPO:0400004)	Long ear	Frequent [Orphanet]	94 / 7739
70	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
71	(HPO:0002410)	Aqueductal stenosis	Occasional [Orphanet]	19 / 7739
72	(OMIM)	Microcystic dysplasia		1 / 7739
73	(OMIM)	Deficient myelination		1 / 7739
74	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
75	(OMIM)	Abnormal gyri		3 / 7739
76	(OMIM)	Floppy ears		2 / 7739
77	(OMIM)	Slender digits		1 / 7739
78	(HPO:0002536)	Abnormal cortical gyration	Frequent [Orphanet]	72 / 7739
79	(HPO:0001302)	Pachygyria		60 / 7739
80	(OMIM)	Small midface		1 / 7739
81	(HPO:0003593)	Infantile onset		249 / 7739
82	(HPO:0002079)	Hypoplasia of the corpus callosum		161 / 7739
83	(HPO:0002059)	Cerebral atrophy		171 / 7739
84	(OMIM)	Small, pinched nose		3 / 7739
85	(HPO:0001272)	Cerebellar atrophy		197 / 7739
86	(OMIM)	Central canal malformation		1 / 7739
87	(OMIM)	Abnormal sulci		1 / 7739
88	(HPO:0002365)	Hypoplasia of the brainstem		41 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Galloway and Mowat (1968) observed a brother and sister with microcephaly, hiatus hernia, and nephrotic syndrome. Death from nephrosis occurred at 20 and 28 months, respectively. Parental consanguinity could not be demonstrated.

Shapiro et al. (1976) ... Galloway and Mowat (1968) observed a brother and sister with microcephaly, hiatus hernia, and nephrotic syndrome. Death from nephrosis occurred at 20 and 28 months, respectively. Parental consanguinity could not be demonstrated. Shapiro et al. (1976) studied a family with affected brother and sister. The parents were unrelated and of different ethnic extraction. The ears were large and floppy. Albuminuria was present from birth. Microcystic dysplasia and focal glomerulosclerosis were found at autopsy. The hiatus hernia caused vomiting with the first oral feeding. The girl had failure of cleavage of the anterior chambers of both eyes. The sibs died at 14 days and 3 years of age, respectively. Roos et al. (1987) found reports of 12 cases and described 2 affected sons of nonconsanguineous parents. Cooperstone et al. (1993) described 3 additional patients, of whom 2 were brother and sister, and reviewed 16 reported cases. Every patient but one had died before age 5.5 years. This was probably the disorder described by Palm et al. (1986) in 2 male sibs (a boy aged 2 years 10 months at death and a male fetus aborted at 22 weeks of gestation). They had similar brain and kidney malformations, namely, paraventricular heterotopias, central canal abnormalities (including hydrocephalus due to aqueductal stenosis in the boy), and glomerular kidney disease with proteinuria. In the fetus the central canal of the spinal cord was represented by 2 or 3 separate tubes. The kidneys were of normal gross appearance but histologically showed several small cysts lying mainly at the corticomedullary junction, lined with rather high epithelium and containing eosinophilic fluid. The authors pointed to a report of a single case of nephrosis and abnormal neuronal migration (Robain and Deonna, 1983). The patient was female. Garty et al. (1994) described a family of Jewish North African origin in which 2 males and a female out of 8 sibs from an uncle-niece marriage had congenital nephrotic syndrome due to diffuse mesangial sclerosis, microcephaly, and psychomotor retardation. The kidneys showed deposits of IgG and C3 in the mesangium and glomerular basement membranes. All 3 children died before the age of 3 years. Garty et al. (1994) reported that of 19 published cases of children with congenital nephrotic syndrome and microcephaly, only 4 had histologic evidence of diffuse mesangial sclerosis and 2 of their sibs probably had the same disease. Hou and Wang (1995) described the cases of 2 unrelated Chinese female infants with microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In 1 patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy performed to investigate the proteinuria with hematuria. Congenital hypothyroidism, presenting with markedly low T3 and T4, was also present in this patient, who died at age 5 months. The second patient had a similar condition but less severe brain and kidney malformations. Kingo et al. (1997) described an infant with presumed Galloway-Mowat syndrome who died at the age of 32 days. The diagnosis was made on the basis of microcephaly, congenital nephrosis, and hiatus hernia. Most of the findings had previously been described in this syndrome; thyroid dysplasia and adrenal hypoplasia were found and considered likely components of the syndrome. Chen et al. (2007) reported an infant with Galloway-Mowat syndrome. Prenatal ultrasound late in gestation revealed intrauterine growth retardation, microcephaly, and oligohydramnios. Postnatally, the infant had hypotonia, a sloping forehead, hypertelorism, epicanthal folds, microphthalmos, low-set floppy ears, small midface, high-arched palate, micrognathia. At age 1 month, he showed developmental delay, proteinuria, and hypoalbuminemia. Brain MRI showed gyral abnormalities frontal pachygyria, and deficient myelination. He died of multiple organ failure at age 2 months.

Symptoms & Signs

	Field	Query
	Disease
	Symptom