Disease (ORPHA:97360):
Robinow-Silverman-Smith syndrome
Robinow dwarfism
Robinow syndrome
Fetal face syndrome
Mesomelic dwarfism-small genitalia syndrome
Acral dysostosis with facial and genital abnormalities

Associated phenotypes (HPO):
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0005011
hpo_term: Mesomelic arm shortening
chpo_term: 臂中段缩短
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000187
hpo_term: Broad alveolar ridges
chpo_term: 宽牙槽嵴
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000207
hpo_term: Triangular mouth
chpo_term: 三角嘴
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006439
hpo_term: Radioulnar dislocation
chpo_term: 尺桡关节脱位
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0010882
hpo_term: Pulmonary valve atresia
chpo_term: 肺动脉瓣闭锁
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030039
hpo_term: Fused thoracic vertebrae
chpo_term: 胸椎融合
id: HP:0030264
hpo_term: Webbed penis
chpo_term: 蹼状阴茎
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0006291
hpo_term: Marked delay in eruption of permanent teeth
chpo_term: 恒牙萌出明显延迟
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低