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496 Possible Causes for Macrocephaly, Muscle Hypotonia, Round Face

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[rarediseases.org] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[ncbi.nlm.nih.gov] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] Macrocephaly may be noted.[symptoma.com]

  • Weaver Syndrome

    , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger[rarediseases.about.com] The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] […] tone (hypotonia), and muscle wasting.[natera.com] […] hypophosphatemia Hemoglobin E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly[checkrare.com]

  • Legius Syndrome

    [Brenk et al 2007] proposed round face to map to the distal 1.6 Mb of 18p, and post-natal growth retardation and seizures to the distal 8 Mb.[healthdocbox.com] XLID-optic atrophy (AGTR2) Arts, PRPP synthetase superactivity (PRPS1) XLID-short stature-muscle wasting (NXF5) Mitochondrial encephalopathy (NDUFA1) 23 21.2 21.3 22.1 22.2[vdocuments.net] Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[rarediseases.org] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] Affiliated tissues include bone , skin and tongue , and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[malacards.org]

  • Mulibrey Nanism Syndrome

    face, frontal bossing and short broad neck with prominent trapezius muscles, tall vertebral bodies, and hip dislocation (Figure 1 c).[ijponline.biomedcentral.com] Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org] […] aged 3 years, was suspected to have Silver–Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly[moh-it.pure.elsevier.com]

  • Trisomy 12p

    The muscle tone may be mixed with some areas such as the neck and trunk showing low muscle tone (hypotonia) and other areas such as the lower limbs showing increased muscle[rarediseases.org] Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[rarediseases.info.nih.gov] Growth delays after birth (postnatal growth retardation) are common along with abnormally diminished muscle tone (hypotonia).[rarediseases.org]

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