Macrocephaly, and Decreased fetal movement

Diseases related with Macrocephaly and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Macrocephaly and Decreased fetal movement that can help you solving undiagnosed cases.


Top matches:

High match LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6


Related symptoms:

  • Flexion contracture
  • Macrocephaly
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6

High match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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Other less relevant matches:

High match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

High match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Medium match THANATOPHORIC DYSPLASIA, TYPE I; TD1


Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Medium match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Medium match FETAL AKINESIA DEFORMATION SEQUENCE


The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Medium match CAREY-FINEMAN-ZITER SYNDROME


Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Medium match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Decreased fetal movement

Symptoms // Phenotype % cases
Polyhydramnios Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Ptosis Cryptorchidism Scoliosis Skeletal muscle atrophy Muscular hypotonia Growth delay Intellectual disability High palate Talipes equinovarus Atrial septal defect Depressed nasal bridge Facial palsy Micrognathia Cleft palate Seizures Low-set ears Cerebellar hypoplasia Respiratory distress Areflexia Narrow chest Feeding difficulties Dysphagia Myopathy Frontal bossing Motor delay Microcephaly Flat face Muscle weakness Heterotopia Ophthalmoplegia Abnormality of the kidney Downslanted palpebral fissures Patent ductus arteriosus Kyphosis Brachydactyly Hypoplasia of the brainstem Arthrogryposis multiplex congenita Proptosis Dandy-Walker malformation Short stature

Rare Symptoms - Less than 30% cases


Centrally nucleated skeletal muscle fibers Disproportionate short-limb short stature Acanthosis nigricans Short ribs Abnormality of the metaphysis Thin ribs Skeletal dysplasia Cavernous hemangioma Hearing impairment Micromelia Talipes Severe short stature Platyspondyly Metaphyseal irregularity Redundant skin Hypoplastic ilia Abnormality of neuronal migration Absent speech Abnormal facial shape Ulnar deviation of the hand Posteriorly rotated ears Long philtrum Short neck Hypertelorism Nocturnal hypoventilation Fractures of the long bones Facial diplegia Hypoventilation Hypokinesia Severe muscular hypotonia Anteverted nares Short nose Mandibular prognathia Flared metaphysis Severe short-limb dwarfism Aplasia/Hypoplasia of the lungs Short femur Epicanthus Small face Cloverleaf skull Increased nuchal translucency Short sacroiliac notch Midface retrusion Lethal short-limbed short stature Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Large for gestational age Hydronephrosis Generalized amyotrophy Paralysis Retrognathia Fetal akinesia sequence Cystic hygroma Premature birth Progressive muscle weakness Polymicrogyria Weak cry External ophthalmoplegia Hydranencephaly Akinesia Pterygium Lissencephaly Intellectual disability, profound Encephalocele Cerebral calcification Intrauterine growth retardation Hypoplasia of the corpus callosum Elevated serum creatine phosphokinase Pyloric stenosis Ophthalmoparesis Congenital contracture Generalized muscle weakness Bilateral talipes equinovarus Aplasia/Hypoplasia of the cerebellum Relative macrocephaly Restrictive ventilatory defect Cranial nerve paralysis Plagiocephaly Abnormal lung morphology Ulnar deviation of finger Microglossia Glossoptosis Ankylosis Pierre-Robin sequence Trismus Flushing Villous atrophy Abnormality of the larynx Hypoplasia of the musculature Oculomotor nerve palsy Laryngeal stenosis Aplasia/Hypoplasia of the tongue Glandular hypospadias Hypertensive crisis Aplasia of the pectoralis major muscle Impaired ocular abduction Broad nasal tip Calf muscle hypertrophy Tapered finger Elbow ankylosis Thoracic hypoplasia Slender long bone Absent septum pellucidum Fatigable weakness Anencephaly Abnormality of abdomen morphology Adrenal hypoplasia Depressed nasal tip Excessive daytime somnolence Overlapping fingers Cavum septum pellucidum Thyroid hypoplasia Ulnar deviation of the hand or of fingers of the hand Short umbilical cord Thin vermilion border Small placenta Absent palmar crease Intestinal hypoplasia Failure to thrive Hypertension Agenesis of corpus callosum Abnormality of metabolism/homeostasis Dilatation Hypospadias Congenital facial diplegia Hyperhidrosis Gastroesophageal reflux Visual impairment Abnormal cardiac septum morphology Pneumonia Hernia Pectoralis hypoplasia Neurodevelopmental delay Cerebellar vermis hypoplasia Low posterior hairline Intention tremor Long eyelashes Tall stature Gingival overgrowth Sparse and thin eyebrow Low anterior hairline Hemivertebrae Sparse eyelashes Sacral dimple Coarse hair Overlapping toe Supernumerary nipple Vertebral segmentation defect Narrow forehead Broad philtrum Bifid ribs Exodeviation Poliosis Bull's eye maculopathy Hyperextensibility of the finger joints Rib fusion Conical tooth Vertebral fusion Rectovaginal fistula Abnormal hair pattern Beaking of vertebral bodies Self-mutilation Sprengel anomaly Shawl scrotum Abnormality of the ribs Postaxial hand polydactyly Strabismus Brachycephaly Cleft lip Anxiety Neonatal hypotonia Pes planus Hypothyroidism Cerebral cortical atrophy Upslanted palpebral fissure Postnatal growth retardation Inguinal hernia Hyporeflexia Pectus excavatum Rocker bottom foot Tremor Wide nasal bridge Low-set, posteriorly rotated ears Wide mouth Renal agenesis Thick eyebrow Wide intermamillary distance Growth hormone deficiency Vesicoureteral reflux Hypoplasia of the maxilla Highly arched eyebrow Wide nose Joint hypermobility Craniosynostosis Oral cleft Cleft upper lip Unsteady gait Synophrys Pectus carinatum Attention deficit hyperactivity disorder Multiple joint contractures Telecanthus Abnormality of pelvic girdle bone morphology Pachygyria Type II lissencephaly Holoprosencephaly Peters anomaly Corpus callosum atrophy Retinal dysplasia Gonadal dysgenesis Short thorax Occipital encephalocele Partial agenesis of the corpus callosum Congenital muscular dystrophy Adducted thumb Optic nerve hypoplasia Large fontanelles Retinal detachment Remnants of the hyaloid vascular system Muscular dystrophy Microtia Abnormality of the skeletal system Deeply set eye Joint stiffness Limb undergrowth Epidermal acanthosis Split hand Bowing of the long bones Wide anterior fontanel Short long bone Radioulnar synostosis Femoral bowing Megalencephaly Agyria Limitation of joint mobility Excessive wrinkled skin Abnormality of the foot musculature Mildly elevated creatine phosphokinase Muscle fibrillation Easy fatigability Drowsiness Malignant hyperthermia Type 1 muscle fiber predominance Areflexia of lower limbs Exercise-induced myalgia Restrictive deficit on pulmonary function testing Proximal muscle weakness in lower limbs EMG: myopathic abnormalities Proximal muscle weakness in upper limbs Neonatal asphyxia Macrocephaly at birth Sleepy facial expression Pain Delayed gross motor development Respiratory insufficiency due to muscle weakness Cognitive impairment Spontaneous abortion Frequent falls Open mouth Urinary incontinence Falls Peripheral axonal neuropathy Myalgia Proximal muscle weakness Difficulty walking Joint hyperflexibility Pes cavus Lethal skeletal dysplasia Craniofacial dysostosis Short palpebral fissure Respiratory failure requiring assisted ventilation Myotonia Neonatal respiratory distress Mask-like facies Long fingers Multiple pterygia Neck muscle weakness Limb joint contracture Head tremor Spherocytosis Diaphragmatic eventration Premature adrenarche Slender toe Birth length greater than 97th percentile Hepatic hemangioma Atrioventricular block Peripheral neuropathy Edema Microretrognathia Hypsarrhythmia Polydactyly Narrow mouth Skeletal muscle hypertrophy Camptodactyly Blepharophimosis Camptodactyly of finger Small for gestational age Pulmonary hypoplasia High, narrow palate Coarctation of aorta Cholelithiasis Hemangioma Severe platyspondyly Lower limb muscle weakness Anemia Glaucoma Myopia Gait disturbance Fatigue Microphthalmia Respiratory failure Dyspnea High forehead Kyphoscoliosis Apnea Cataract Dolichocephaly Limb muscle weakness Arachnodactyly Sleep apnea Long face Inability to walk Abnormal bleeding Dental malocclusion Waddling gait Hip dysplasia Hepatitis Nephrolithiasis Decreased liver function Narrow face EMG abnormality Nephrocalcinosis Accelerated skeletal maturation Severe hydrocephalus Microdontia of primary teeth



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