• Weakness

  Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. [ncbi.nlm.nih.gov]

  Due to weak bones and, in some cases, low muscle tone, patients may complain of back pain and fatigue, and display waddling gait. [rarediseases.org]

• Feeding Difficulties

  Some patients experience digestive system problems and have difficulties in nutrition absorption. They require feeding support for survival in early childhood and suffer from chronic constipation. [rarediseases.org]

• Inflammation

  […] uncommon musculoskeletal changes have been recorded, including funnel chest, outward turning of the heel or inversion of the foot (pes valgus), expanded gap between the great toe and the rest of the toes (sandal grooves), joint hypermobility and hip joint inflammation [rarediseases.org]

• Pain

  Due to weak bones and, in some cases, low muscle tone, patients may complain of back pain and fatigue, and display waddling gait. [rarediseases.org]

• Constipation

  They require feeding support for survival in early childhood and suffer from chronic constipation. Patients usually have normal speech, hearing and intelligence. [rarediseases.org]

• Macrotia

  Macrotia MedGen UID: 488785 •Concept ID: C0152421 • Congenital Abnormality Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent [ncbi.nlm.nih.gov]

  Affiliated tissues include bone and skin, and related phenotypes are kyphosis and macrotia OMIM®: 57 The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal [malacards.org]

• Sweating

  Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]

• Papule

  […] relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular papules [rarediseases.org]

• Back Pain

  Due to weak bones and, in some cases, low muscle tone, patients may complain of back pain and fatigue, and display waddling gait. [rarediseases.org]

• Brachydactyly

  The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. [ncbi.nlm.nih.gov]

  Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. [malacards.org]

• Lordosis

  If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. [ncbi.nlm.nih.gov]

• Myopathy

  Waddling gait MedGen UID: 66667 •Concept ID: C0231712 • Finding Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. [ncbi.nlm.nih.gov]

• Joint Dislocation

  MalaCards based summary: Spondyloepiphyseal Dysplasia, Kondo-Fu Type, also known as sed with elevated blood lysosomal enzymes, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and silver-russell syndrome 1. [malacards.org]

• Waddling Gait

  The gait appears waddling. [ncbi.nlm.nih.gov]

  Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. [malacards.org]

  Due to weak bones and, in some cases, low muscle tone, patients may complain of back pain and fatigue, and display waddling gait. [rarediseases.org]

• Seizure

  Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]

Patients can be managed with symptomatic and supportive treatment. Please note that SEDKF was only recently discovered and only a few patients have been identified so far. [rarediseases.org]