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11 Possible Causes for Large Penis, Short Humerus, Short Stature

  • Wiedemann-Rautenstrauch Syndrome

    Patients have premature aging aspect, short stature and a poorly muscled build.[accessanesthesiology.mhmedical.com] penis Growth Postnatal growth deficiency Hearing Sensorineural hearing loss Intrauterine development Intrauterine growth retardation Joints and Tendons Joint contractures[datagenno.com] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth.[en.wikipedia.org]

  • Robinow Syndrome

    It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities.[ncbi.nlm.nih.gov] Short radius, ulna and tibia. Absent fibula. Normal femur humerus. Ligamentous laxity. Shortening of all long bones (especially tibia and radius).[fetalultrasound.com] […] philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macroglossia Abnormally large tongue Increased size of tongue Large[rarediseases.info.nih.gov]

  • Humerus Trochlea Aplasia

    stature mental retardation Hypoparathyroidism short stature Hypoparathyroidism X linked Hypoparathyroidism Hypophosphatasia, infantile Hypophosphatasia Hypophosphatemic rickets[wikidoc.org] Human phenotypes related to Trochlea of the Humerus, Aplasia of: 33 # Description HPO Frequency HPO Source Accession 1 cleft palate 33 HP:0000175 2 short humerus 33 HP:0005792[malacards.org] There may also be other anomalies such as hypogonadism, horseshoe kidney, bladder obstruction, a micro penis, anal atresia and Hirschsprung disease (large intestine).[obgynkey.com]

  • Femoral Hypoplasia

    - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low[mediscansystems.org] […] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in[phenotip.com] Hypoplastic acetabulae, large obturator foraminae. Spine. Dysplastic sacrum. Missing and/or hemivertebrae. Scoliosis. Genitourinary. Cryptorchidism.[fetalultrasound.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Systemic Features: This is a usually fatal form of skeletal dysplasia with splenic and ocular features as well.[disorders.eyes.arizona.edu] Congenital brittle bones with rhizomelia A particular form of SROI with short humerus and recessive inheritance was described in a First Nations community of Quebec, and published[bmcpediatr.biomedcentral.com] Females may have an abnormal heart-shaped uterus that is split into two instead of one large cavity, called a bicornuate uterus.[rarediseases.org]

  • Femoral Agenesis - Femoral Hypoplasia

    - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low[mediscansystems.org] […] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in[phenotip.com] Another combination of anomalies involves extremely short digits with hypoplasia/aplasia of proximal and middle phalanges in the fingers and toes, short stature, bilateral[rrnursingschool.biz]

  • Chromosome 6q11-q14 Deletion Syndrome

    OMIM : 58 The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract[malacards.org] . - short or absent ulna and/or humerus - malformations of hip or knee - heart defects e.g.[brainscape.com] Clinodactyly of the 5th finger Narrow mouth Prominent forehead Abnormality of the genital system High forehead Hyperactivity Autism Wide nose Ambiguous genitalia Hypoplasia of penis[mendelian.co]

  • Humero-Radial Synostosis

    - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low[mediscansystems.org] There was aplasia of the left ulna and a short left radius fused to a very short humerus.[annsaudimed.net] Type III (distal) – short humerus attached to hand.  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial[de.slideshare.net]

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

    short stature ; Ectopic anus ; Epicanthus ; Esophageal atresia ; Facial cleft ; Frontal bossing ; Hydronephrosis ; Hydrops fetalis ; Hypoplasia of penis ; Lethal skeletal[mousephenotype.org] SRPS is generally characterized by short ribs, a bell-shaped torso, and short measurements of the long bones (femur and humerus).[srps.net] Underdeveloped penis 0008736 Long philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Micrognathia Little lower jaw[rarediseases.info.nih.gov]

  • Absence or Deformity of Leg- Cataract Syndrome

    stature SOURCES: ORPHANET OMIM MONDO UMLS More info about PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD Low match MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA[mendelian.co] […] soft tissue) Syndactyly of fingers Talipes Hypoplastic lungs Tracheal abnormality Agenesis / hypoplasia of kidneys Ureteric abnormalities (reflux / hydronephrosis) Small penis[mediscansystems.org] : short, pectus excavatum, winging of scapula HEAD: excess skin on nape, low post hairline, high ant hairline, macrocephaly, traingular face, short webbed neck EYES: hypertelorism[quizlet.com]

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