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Trichomegaly - retina pigmentary degeneration - dwarfism

General Information (adopted from Orphanet):

Synonyms, Signs:	EYELASHES, LONG, WITH MENTAL RETARDATION oliver-mcfarlane syndrome Long eyelashes - intellectual deficit
Number of Symptoms	42
OrphanetNr:	3363
OMIM Id:	275400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	11 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000044)	Hypogonadotrophic hypogonadism		56 / 7739
2	(HPO:0000028)	Cryptorchidism		347 / 7739
3	(HPO:0008736)	Hypoplasia of penis		7 / 7739
4	(HPO:0002007)	Frontal bossing	Frequent [Orphanet]	366 / 7739
5	(HPO:0200102)	Sparse or absent eyelashes	Very frequent [Orphanet]	64 / 7739
6	(HPO:0000574)	Thick eyebrow	Very frequent [Orphanet]	96 / 7739
7	(HPO:0000664)	Synophrys	Frequent [Orphanet]	112 / 7739
8	(HPO:0000527)	Long eyelashes		46 / 7739
9	(HPO:0000499)	Abnormality of the eyelashes	Very frequent [Orphanet]	35 / 7739
10	(HPO:0004523)	Long eyebrows		4 / 7739
11	(HPO:0000269)	Prominent occiput	Frequent [Orphanet]	43 / 7739
12	(HPO:0000684)	Delayed eruption of teeth	Very frequent [Orphanet]	117 / 7739
13	(HPO:0001146)	Pigmentary retinal degeneration		15 / 7739
14	(HPO:0001100)	Heterochromia iridis	Very frequent [Orphanet]	31 / 7739
15	(HPO:0007818)	Central heterochromia		2 / 7739
16	(HPO:0000510)	Rod-cone dystrophy	Very frequent [Orphanet]	266 / 7739
17	(HPO:0000639)	Nystagmus	Very frequent [Orphanet]	555 / 7739
18	(HPO:0000505)	Visual impairment	Very frequent [Orphanet]	297 / 7739
19	(HPO:0003134)	Abnormality of peripheral nerve conduction	Very frequent [Orphanet]	38 / 7739
20	(HPO:0003477)	Peripheral axonal neuropathy		62 / 7739
21	(HPO:0001249)	Intellectual disability		1089 / 7739
22	(HPO:0000824)	Growth hormone deficiency		56 / 7739
23	(HPO:0000823)	Delayed puberty		65 / 7739
24	(HPO:0008373)	Puberty and gonadal disorders	Very frequent [Orphanet]	156 / 7739
25	(HPO:0002750)	Delayed skeletal maturation	Very frequent [Orphanet]	250 / 7739
26	(HPO:0001511)	Intrauterine growth retardation	Very frequent [Orphanet]	358 / 7739
27	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
28	(HPO:0003510)	Severe short stature		90 / 7739
29	(HPO:0001518)	Small for gestational age		107 / 7739
30	(HPO:0001956)	Truncal obesity	Very frequent [Orphanet]	39 / 7739
31	(HPO:0002213)	Fine hair	Frequent [Orphanet]	77 / 7739
32	(HPO:0001006)	Hypotrichosis	Very frequent [Orphanet]	219 / 7739
33	(HPO:0002460)	Distal muscle weakness		122 / 7739
34	(HPO:0003693)	Distal amyotrophy		118 / 7739
35	(OMIM)	Very long eyelashes and eyebrows		1 / 7739
36	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
37	(OMIM)	Bulging occipital and frontal bones		1 / 7739
38	(OMIM)	Distal muscle weakness and wasting		1 / 7739
39	(HPO:0040075)	Hypopituitarism	Very frequent [Orphanet]	32 / 7739
40	(OMIM)	Frontal alopecia		1 / 7739
41	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
42	(OMIM)	Low-birth-weight dwarfism		2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Oliver and McFarlane (1965) described an isolated case of a male child with low-birth weight dwarfism, very long eyelashes and eyebrows, mental retardation, and pigmentary degeneration of the retina. The karyotype was normal and the parents were not ... Oliver and McFarlane (1965) described an isolated case of a male child with low-birth weight dwarfism, very long eyelashes and eyebrows, mental retardation, and pigmentary degeneration of the retina. The karyotype was normal and the parents were not consanguineous. Corby et al. (1971) reported a case of the full syndrome. Delleman and Van Walbeek (1975) described a case in a 24-year-old man who had been under observation for 19 years. The retinal degeneration resembled choroideremia. Cryptorchidism, underdevelopment of the penis, frontal alopecia, and bulging of the occipital and frontal bones were noted. Partial trisomy of chromosome 13 was suggested by karyotyping. Sampson et al. (1989) presented a 25-year follow-up of a patient. The father and mother were aged 37 and 28 years, respectively, at the time of the patient's birth. At the age of 2 years, she showed horizontal nystagmus and bilateral choroidoretinal pigmentary degeneration. Ring heterochromia of the iris and trichomegaly were also noted. Alopecia became evident by age 3 and was almost complete by the early teens. Scalp biopsy showed a perifollicular lymphocyte infiltrate which was similar to that seen in alopecia areata. Distal muscle weakness and wasting, affecting particularly the lower limbs, progressed slowly during her first decade. An axonal peripheral neuropathy was found in this patient and in the adult reported by Patton et al. (1986). When the patient was seen at age 15 because of delayed puberty, she was found to have growth hormone deficiency and hypogonadotropic hypogonadism. Treatment with growth hormone resulted in a growth spurt with a final adult height of 153 cm. Zaun et al. (1984) reported a case. Kondoh et al. (2003) stated that 2 female and 5 male patients with this disorder had been reported. They described 2 unrelated boys with trichomegaly and mental retardation, but without pigmentary retinal degeneration. One of them also lacked growth retardation. Haimi and Gershoni-Baruch (2005) described a brother and sister, born of first-cousin Arab parents, who had retinitis pigmentosa, growth failure with mildly delayed cognitive function, long eyelashes, and sparse hair. Haimi and Gershoni-Baruch (2005) concluded that these sibs confirmed the existence of this autosomal recessive condition. Sonmez et al. (2008) described a 13-year-old boy with Oliver-McFarlane syndrome who had prominent early pituitary dysfunction. During the neonatal period he had episodes of recurrent hypoglycemia and was noted to have micropenis and bilateral undescended testes, and thyroid and growth hormone supplementation was initiated. Gross motor development was delayed, and he did not walk independently until 4 years of age; however, his gait was wide-based and unsteady, and he was found to have sensory axonal neuropathy with normal motor nerve findings. Four years later, his sensory nerve action potentials were completely absent, but motor nerve function remained normal. Within a year his walking deteriorated, and he reverted to commando crawling. In addition, at 5 years of age, he had difficulty seeing in low light, and ophthalmologic examination revealed bilateral decreased vision and dramatic choroidal and retinal atrophy associated with retinal pigmentation. At 13 years of age, he could crawl short distances but was otherwise wheelchair dependent, had a moderate degree of learning difficulties, and remained incontinent. He was in the third centile for height and 50th centile for weight, and had long eyelashes, bushy eyebrows, and frontal bossing. He also had hypogonadotropic hypogonadism, and testosterone injections had been commenced to induce puberty. Sonmez et al. (2008) stated that of 12 previously reported cases of Oliver-McFarlane syndrome, the only consistent features in every case were trichomegaly, chorioretinopathy, and prenatal and postnatal growth restrictions. Regarding the progressive deterioration in motor function in their patient, which had been attributed to his severe peripheral neuropathy, the authors noted that peripheral neuropathy had been recognized in 6 earlier cases, and 2 patients also showed evidence of progressive cerebellar ataxia.

Symptoms & Signs

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