Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [ncbi.nlm.nih.gov]

[…] associated with large-headed multiflagellar polyploid spermatozoa Male infertility due to NANOS1 mutation Male infertility with normal virilization due to maturation arrest Male infertility with normal virilization due to meiosis defect Male pseudohermaphroditism [csbg.cnb.csic.es]

Proportionate short stature MedGen UID: 163901 •Concept ID: C0878660 • Finding A kind of short stature in which different regions of the body are shortened to a comparable extent. [ncbi.nlm.nih.gov]

[…] posteriorly rotated ears small ears abnormal auricles hearing loss (rare) Skeletal Hands: camptodactyly hyperextensible hand joints mild syndactyly fifth finger clinodactyly interdigital webbing more Head And Neck Neck: long neck Head And Neck Teeth: malocclusion [malacards.org]

Dental malocclusion MedGen UID: 9869 •Concept ID: C0024636 • Anatomical Abnormality An inherited or acquired dental abnormality characterized by improper alignment of the teeth. [ncbi.nlm.nih.gov]

The primary diagnostic criteria [1] include short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with [jmgims.co.in]

The primary diagnostic criteria [1] includes short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with or without malocclusion, a crease below the lower lip, abnormal auricles with [cjhr.org]

[…] peak coarse, dry scalp hair hypopigmented scalp hair Head And Neck Nose: anteverted nostrils high nasal bridge short, stubby nose Neurologic Central Nervous System: normal intelligence mental retardation (rare) central facial nerve paralysis (rare) trismus [malacards.org]

Trismus MedGen UID: 21671 •Concept ID: C0041105 • Disease or Syndrome Lack of ability to open the mouth fully due to decreased range of motion of the muscles of mastication. It may be a symptom of tetanus. [ncbi.nlm.nih.gov]

Cardiomyopathy with myopathy due to COX deficiency Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia Cardiovascular Gaucher disease Carmi syndrome Carney complex Carney complex variant Carney complex-trismus-pseudocamptodactyly [csbg.cnb.csic.es]

External Features: sloping shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow palate wide mouth high-arched [malacards.org]

A high arched palate was observed with palatal positioning of second premolars [Table/Fig-6]. The maxillary central incisors were macrodontic with altered morphology and diastema [Table/Fig-7]. [jcdr.net]

teeth Chest External Features: sloping shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow palate [malacards.org]

Posteriorly rotated ears MedGen UID: 96566 •Concept ID: C0431478 • Congenital Abnormality Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A general term for the complete or partial loss of the ability to hear from one [ncbi.nlm.nih.gov]

impairment Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage myopathy [csbg.cnb.csic.es]

shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow palate wide mouth high-arched palate pouting [malacards.org]

Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

dislocations, CHST3 type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with snail-like pelvis Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodystrophia calcificans congenita Chondroectodermal dysplasia Chondrosarcoma [csbg.cnb.csic.es]

Pollakisuria MedGen UID: 52942 •Concept ID: C0042023 • Finding Increased frequency of urination. Shawl scrotum MedGen UID: 388088 •Concept ID: C1858539 • Congenital Abnormality Superior margin of the scrotum superior to the base of the penis. [ncbi.nlm.nih.gov]