Rare Disease Library

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

May-Thurner syndrome

MTS · Cockett syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Menkes disease

Menkes kinky hair disease · MD

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Osteosclerotic bone dysplasia

Raine syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Progressive supranuclear palsy

PSP syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Radio-renal syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Rett syndrome

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome